3 Matching Annotations
  1. Last 7 days
  2. 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
    2
    1. ClingenBaseline 23 Oct 2026
      UQU-HB7

      Case#: UQU-HB7, Male, 16-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee and both ankles , PTT 53.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 22 Oct 2026
      UQU-HB6

      Case#: UQU-HB6, Male, 11-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Disabled right knee, PTT 52.2

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.880C>T (p.Arg294Ter)

      ClinVar: 10587 https://www.ncbi.nlm.nih.gov/clinvar/variation/10587/

      CAID: CA255344

      gnomAD: Not reported

      ClinVarID:10587 CAID:CA255344 Mutation:Nonsense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    1
    1. ClingenBaseline 23 Oct 2026
      10

      Case#: 10

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.8%

      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:

      LegacyVariant: NM_000133.3:c.880C>T

      ClinVar: No

      CAID: CA255344

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255344 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/