4 Matching Annotations
  1. Last 7 days
  2. 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
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    pubmed.ncbi.nlm.nih.gov/8091381/
  3. 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
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    pubmed.ncbi.nlm.nih.gov/22544209/
  4. 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
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    illiad.lib.unc.edu/NOH/illiad.dll
  5. 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
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2003.04141.x