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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 25 Oct 2026
      UQU-HA39

      Case#: UQU-HA39, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001892 (Abnormal bleeding)

      CaseHPOFreeText: Moderate, FVIII: 5-40% (moderate HA) based on text

      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.2138del (p.Asn713ThrfsTer9)

      ClinVar: NA

      CAID: CA1139532050

      gnomAD: Not reported

      Mutation:Frameshift InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 CAID:CA1139532050 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/