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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
    1
    1. ClingenBaseline 24 Oct 2026
      c.3093delAAGA

      Case#: 4

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe, Inhibitors present

      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.3091_3094del (p.Lys1031fs)

      ClinVar: 369689 https://www.ncbi.nlm.nih.gov/clinvar/variation/369689/

      CAID: CA645509240

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown InheritancePattern:Xlinked HGNC:3546 CaseInfo ClinVarID:369689 CAID:CA645509240 Zygosity:NoZygosityAssertion Gene:F8 Mutation:Frameshift 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/