44 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
    10
    1. ClingenBaseline 22 Oct 2026
      21.

      Case#: 21

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1136G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255394

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      15.

      Case#: 15

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 3.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.881G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255368

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026
      14.

      Case#: 14

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 10%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.835G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA277507

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA277507 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      44.

      Case#: 44

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.253-2A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414436483

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Splice Inhibitor:Absent CAID:CA414436483 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      20.

      Case#: 20

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 6%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1136G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255394

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255394 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 21 Oct 2026
      49.

      Case#: 49

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.862_863delGA

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Inhibitor:Absent Mutation:Frameshift UnregisteredVariant inferred_gene_hgnc:3551 inferred_gene_source:RefSeq ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 21 Oct 2026
      7.

      Case#: 7

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.344A>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414437636

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414437636 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 21 Oct 2026
      28.

      Case#: 28

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1274T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414447009

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA414447009 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 21 Oct 2026
      35.

      Case#: 35

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.223C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA340993

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Present CAID:CA340993 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 21 Oct 2026
      36.

      Case#: 36

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.535G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414440319

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA414440319 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
    2
    1. ClingenBaseline 22 Oct 2026
      C28Y

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      I17N

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.50T>A (p.Ile17Asn)

      ClinVar: Absent

      CAID: CA414434315

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434315 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  4. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    2
    1. ClingenBaseline 22 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_4 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_14 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant:

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 ParentalTest:Unknown DiseaseSeverity:Severe FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    haematologica.org/article/view/3523
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    5
    1. ClingenBaseline 22 Oct 2026
      14

      Case#: 14

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.59T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414434363

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414434363 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      3

      Case#: 3

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.881G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA255368

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense Inhibitor:NotReported CAID:CA255368 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 22 Oct 2026
      9

      Case#: 9

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 5.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.172G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435830

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense DiseaseSeverity:MildHemophiliaB CAID:CA414435830 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 21 Oct 2026
      22

      Case#: 22

      DiseaseAssertion: Hemophilia B, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 19.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.571C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255340

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:MildHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255340 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 21 Oct 2026
      13

      Case#: 13

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 3.7%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.374G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414437883

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation: Missense CAID:CA414437883 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Green_London_3 & Green_London_4 (assumed male)

      DiseaseAssertion: Severe Hemophillia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (London 3: FIX:C:1, FIX:Ag: 48) (London 4: FIX:C:1, FIX:Ag: 45)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/2743975/
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age
    1
    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: HB348 (assumed male, Caucasian, 28 y/o)

      DiseaseAssertion: No disease assertion made

      FamilyInfo: Of the 30 families, germline or so- matic origins were found in 9 mothers, 5 maternal grandmothers, and 16 maternal grandfathers. For the 29 incomplete families, origins were found in 14 mothers, 5 maternal grandmothers, and 10 maternal grandfathers. Comparing the two family types shows no significant difference (P=0.29), suggesting that no major bias occurs in the analyses because of the inclusion of incomplete families

      ParentalTesting: N/A

      CasePresentingHPOs: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10647899/
  8. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0049-3848(92)90249-A
    1
    1. ClingenBaseline 22 Oct 2026
      Arg- > Gln

      Case#: Patient C (assumed male)

      DiseaseAssertion: Severe, Sporadic Hemophilia B

      FamilyInfo: Patient C's mother and two sisters were also heterozygous; and the third sister was homozygous for cleavage and is a non-carrier

      ParentalTesting: Mother was heterozygous for the variant

      CasePresentingHPOs: HP:0011858

      CasePresentingHPOsFreeText: reduced factor IX activity (FIX:C: <1; FIX:Ag:65)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:Full ParentalTest:Mother DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf
  9. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: IG38 (Italian, assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 20)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.16364C>T (p.Arg-4Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/j.1365-2516.2006.01275.x
  10. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
    1
    1. ClingenBaseline 21 Oct 2026
      Thr37

      Case#: Pezeshkpoor_Patient_N (male, 68 y/o, from Switzerland)

      DiseaseAssertion: Hemophilia B

      FamilyInfo: The daughter of the patient has the mutation, while the brother of the patient does not.

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: mechanical aoritc valve replacement, low FIX:C levels

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Full ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00277-018-3264-2
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    1
    1. ClingenBaseline 21 Oct 2026
      Click here for additional data file

      Case#: N/A

      DiseaseAssertion: Hemophilia B (severity not specified)

      FamilyInfo: Not provided

      ParentalTesting: Not provided

      CasePresentingHPOs: Not provided

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.68T>C (p.Leu23Pro)

      ClinVar: Absent

      CAID: CA414434403

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434403 FIXTesting:None ParentalTest:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
    1
    1. ClingenBaseline 21 Oct 2026
      missense mutation

      Case#: Family HB90

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C:4 (post therapy values but clinically severe by criteria of Eyster et al. (1980)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      AdditionalCaseInfo: Previously reported by Giannelli et al. (1990)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/1680287/
  13. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
    1
    1. ClingenBaseline 21 Oct 2026
      mutations

      Case#: B21 (assumed male, Indian origin)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: reduced factor IX activity (FIX:C: 1.3%)

      CaseHPOsFreeText: HP:0011858

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/15086324/
  14. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
    1
    1. ClingenBaseline 21 Oct 2026
      mutations

      Case#: Saad_Probands 86-92 (assumed male; from UK)

      DiseaseAssertion: Saad_Probands 86-87: no disease assertion made ; Saad_Probands 88, 90, 91: Moderate Hemophilia B ; Saad_Probands 89, 92: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Proband_88 FIX:C:1 ; FIX:Ag:48, Proband_ 89 FIX:C: <1, Proband_90: FIX:C: 1 ; FIX:Ag:45, Proband_91: FIX:C: 2, Proband_92: FIX:C:<1)

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Unknown DiseaseSeverity:Moderate DiseaseSeverity:Severe FIXTesting:Partial inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8091381/
  15. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
    1
    1. ClingenBaseline 21 Oct 2026
      c.835G>A

      Case#: 47

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 18/26% (Mild Phenotype)

      CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.835G>A (p.Ala279Thr)

      ClinVar: 216926 https://www.ncbi.nlm.nih.gov/clinvar/variation/216926/

      CAID: CA277507

      gnomAD: Not reported

      ClinVarID:216926 CAID:CA277507 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Mutation:Missense FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article
    1
    1. ClingenBaseline 21 Oct 2026
      3-year-old boy

      Case1: 3-year-old boy

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: The pathogenic mutation of F9 gene in this family was identified, Mother and Grandmother are HB carriers, Father tested negative. Pedigree shown in Figure 1.

      ParentalTesting: Sequences at the mutation locus in F9 genes were analyzed by Sanger sequencing.

      CasePresentingHPOs: NA

      CaseHPOFreeText: Hemorrhagic spots on his skin at birth, Gingival bleeding, APTT 66.5 s, FIX:C < 1%, FVIII:C 116.8%

      CasePreviousTesting: PCR amplification for coding and flanking sequences of F9 gene, PCR amplification products sequenced by Songon Biotech Co. Ltd.

      Gene: F9

      Variant: NM_000133.3:c.1232G>C (p.Ser411Thr)

      ClinVar: NA

      CAID: CA414446686

      gnomAD: NA

      CaseInfo FamilyInfo Gene:F9 HGNC:3551 DiseaseEntity:FactorIXDeficiency InheritancePattern:Xlinked Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414446686 FIXtesting:Partial ParentalTest:Both ParentalConfirmation:Maternity inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6571360/
  17. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
    1
    1. ClingenBaseline 21 Oct 2026
      Arg-4Leu (Arg43Leu)

      Case#: HB-KHF-25 (Male, Korean)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Among the 33 patients, 13 had a family history (39%), while the rest of the patients did not (sporadic, 61%). 27 patients (82%) had the severe form of the disease, while 6 patients (18%) had the moderate form

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003645, HP:0011858

      CaseHPOsFreeText: Prolonged partial thromboplastin time, reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: aPTT and one-stage clotting assay at labs where patients were ascertained: FIX-deficient plasma (STA®-Deficient IX; Diagnostica Stago, Asnieres-sur-Seine, France; reference range, 60–150%) at Samsung Medical Center or HemosIL™ (Instrumentation Laboratory, Milan, Italy; reference range, 50–145%) at the Korea Hemophilia Foundation.

      Gene: F9

      Variant: NM_000133.4:c.128G>T (p.Arg43Leu)

      ClinVar: 993549

      CAID: CA414435545

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo DiseaseEntity:FactorIXDeficiency InheritancePattern:X-Linked Zygosity:NoZygosityAssertion FIXTesting:Partial CAID:CA414435545 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
  18. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Severe bleeding due to hypersensitivity to vitamin K antagonist caused by the c.109G>A (p.Ala37Thr) mutation in the F9 gene in a patient with mechanical heart valve prosthesis
    1
    1. ClingenBaseline 21 Oct 2026
      c.109G>A (p.Ala37Thr)

      Case#: Odnoczko_Case (male, 74 y/o, in Poland)

      DiseaseAssertion: Severe Hemophilia B (only in patients who receive vitamin K antagnoists (VKAs). The authors believe that during VKA therapy, the FIX activity is much lower than that of other vitamin K-dependent clotting factors for cases with this variant.

      FamilyInfo: Family history of bleeding diathesis was negative

      ParentalTesting:

      CasePresentingHPOs: HP:0012233, HP:0031364, HP:0001892

      CaseHPOsFreeText: left thigh & buttock hematoma, ecchymosis on extremeties with no mucosal bleeding, bleeding diathesis

      CasePreviousTesting: local labaratory blood tests revealed anemia (hemoglobin concentration 8 g/dl; ref. range 14–18 g/dl), prolongation of prothrombin time (PT) with International Normalized Ratio (INR) within the therapeutic range (between 2.0 and 3.0). The proband's activated partial thromboplastin time (APTT) was significantly (>2-folds) prolonged and FIX activity markedly decreased

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:Hemizygous CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384818306443
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    1
    1. ClingenBaseline 21 Oct 2026
      UQU-HB11

      Case#: UQU-HB11, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001892 (Abnormal bleeding)

      CaseHPOFreeText: Severe, Unable to flex elbows fully, PTT 148.3

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.4(F9):c.855G>C (p.Glu285Asp)

      ClinVar: 828138 https://www.ncbi.nlm.nih.gov/clinvar/variation/828138/

      CAID: CA414444506

      gnomAD: Not reported

      ClinVarID:828138 CAID:CA414444506 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  20. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
    1
    1. ClingenBaseline 21 Oct 2026
      mutation

      Case#: Mutation found in 4 patients, and in 4 families

      DiseaseAssertion: Severe in 2 cases, moderate in the other 2 cases

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858, HP:0003645, HP:0001892

      CaseHPOsFreeText: reduced factor IX activity, activated partial thromboplastin time (APTT), normal FVIII clotting activity and bleeding tendency

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 ParentalTest:Unknown FIXTesting:None DiseaseSeverity:Moderate DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/22544209/
  21. illiad.lib.unc.edu illiad.lib.unc.edu
    3072518.pdf
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient HB401 (Hispanic; Male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX Coagulant Activity: 1%

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.50T>A (p.Ile17Asn)

      LegacyVariant: c.79T>A (p.Ile-30Asn)

      ClinVar: Absent

      CAID: CA414434315

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434315 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    illiad.lib.unc.edu/NOH/illiad.dll
  22. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    3
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 63 (Spanish origin; assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX:C = 3 (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 21 Oct 2026

      Case#: Patient 66 (Spanish origin; assumed male)

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Factor IX: C = 30% (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4(F9):c.19A>T (p.Ile7Phe)

      LegacyVariant: c.48A>T (p.Ile-40Phe)

      ClinVar: 367997

      CAID: CA10529708

      gnomAD: Filtering AF: 0.0007752 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529708 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 21 Oct 2026

      Case#: Patient 72 (Spanish origin; assumed male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Not available

      ParentalTesting: Not available

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX:C = <1 (reduced factor IX activity)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO
  23. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
    1
    1. ClingenBaseline 21 Oct 2026
      Arg-4Leu

      Case#: 37HBT150 (Turkish; assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: Not provided

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: Reduced factor IX activity (FIX:C: 1.3)

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>T (p.Arg43Leu)

      LegacyVariant: c.6365 G>T (p.Arg-4Leu)

      ClinVar: 993549

      CAID: CA414435545

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435545 ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2003.04141.x
  24. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
    1
    1. ClingenBaseline 21 Oct 2026
      mutation

      Case#: HB-125 (assumed male, India)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C <1%)

      CaseNotHPOs: None

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/16270648/
  25. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
    1
    1. ClingenBaseline 21 Oct 2026
      mutation

      Case#: Heit_Proband_HB535 (assumed male, AmerIndian from Peru)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.6364C>T (Arg-4Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9600455/
  26. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
    1
    1. ClingenBaseline 21 Oct 2026
      c.110C > T p (Ala37Val).

      Case#: Mülling_Proband_1 (55 y/o, male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858, HP:0100584, HP:0002094

      CaseHPOsFreeText: Reduced factor IX activity (FIX activity: 3%), infective endocarditis, dyspnea

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.110C>T (p.Ala37Val)

      ClinVar: Absent

      CAID: CA414435437

      gnomAD: 0.00002186 in European (non-Finnish) population (highest frequency of variant found in this population)

      AdditionalCaseInfo: Patient developed severe bleeding under therapy with phenprocoumon, aPTT was prolonged, while factor IX activity was significantly reduced. Acquired hemophilia was excluded, due to missing detection of inhibitors

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435437 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC8243751/
  27. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
    1
    1. ClingenBaseline 21 Oct 2026
      mutations

      Case#: Ghanem_Paris 2 (assumed male, from Paris) & Ghanem_ Caen 2 (assumed male, from Caen)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (Paris 2: FIX:C: <1, FIX:Ag: 28, Caen 2: FIX:C: <1

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Highest AF (South Asian population): 0.0004904

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe CAID:CA414435537 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8055323/
  28. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis
    1
    1. ClingenBaseline 21 Oct 2026
      Variant

      Case#: Calgary 15

      DiseaseAssertion: Hemophilia B (severity not provided)

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (does not specify severity for probands) "patients from these kindreds have various disease severity, with plasma factor IX activity from < 0.01 U/mL to 0.30 U/mL." "FIX antigen was not available from patients from 6 kindreds, reduced in seven, normal in six, and not available from six."

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      LegacyVariant: c.6365 G>A (p.Arg-4Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 Zygosity:NoZygosityAssertion ParentalTest:Unknown FIXTesting:Full inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8320491/