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  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
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    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
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    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/