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    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 23 Oct 2026
      UQU-HB1

      Case#: UQU-HB1, Male, 2-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, PTT 74.5

      CasePreviousTesting: Screened for all factor IX exons by capillary sequencing

      Gene: F9

      Variant: NM_000133.3(F9):c.1136G>A (p.Arg379Gln)

      ClinVar: 10613 https://www.ncbi.nlm.nih.gov/clinvar/variation/10613/

      CAID: CA255394

      gnomAD: Not reported

      ClinVarID:10613 CAID:CA255394 Mutation:Missense Zygosity:NoZygosityAssertion DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion 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/