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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    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 21 Oct 2026
      c.1251insC

      Case#: 1

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Severe

      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:c.1251_1252insC (p.Val418ArgfsTer6)

      ClinVar: NA

      CAID: CA1139532040

      gnomAD: Not reported

      Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 CAID:CA1139532040 InheritancePattern:NoInheritanceAssertion 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/