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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 22 Oct 2026
      UQU-HA33

      Case#: UQU-HA33, Male, 2-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: PTT 99.5, Disabled Right Knee, Severe

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.760A>G (p.Asn254Asp)

      ClinVar: NA

      CAID: CA414918977

      gnomAD: Not reported

      CAID:CA414918977 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/