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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 23 Oct 2026
      c.248C>G

      Case#: 12

      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:c.248C>G (p.Pro83Arg)

      ClinVar: NA

      CAID: CA10568618

      gnomAD: MAF for Pro83Arg in the Ashkenazi Jewish population 0.0001335<br>https://gnomad.broadinstitute.org/variant/X-154227771-G-C?dataset=gnomad_r2_1

      CAID:CA10568618 DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:Xlinked 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/