1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    1
    1. ClingenBaseline 21 Oct 2026
      S14

      Case#: S14, Iranian

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125, HP:0005261

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed

      Gene: F8

      Variant: NM_000132.3:c.575T>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414919417

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported FVIIItesting:Partial ParentalTest:Unknown Mutation:Missense CAID:CA414919417 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/