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    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
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    1. ClingenBaseline 24 Oct 2026
      C.6301C>G

      Case#: 26

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Mild

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3(F8):c.6301C>G (p.His2101Asp)

      ClinVar: 804137 https://www.ncbi.nlm.nih.gov/clinvar/variation/804137/

      CAID: CA414900220

      gnomAD: Not reported

      CAID:CA414900220 ClinVarID:804137 Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 Mutation:Missense 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/PMC2275016/