1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    1
    1. ClingenBaseline 24 Oct 2026
      UQU-HA38

      Case#: UQU-HA36, Male, 1-months-old, Saudi Arabia

      DiseaseAssertion: Hemophilia A

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0001892 (Abnormal bleeding)

      CaseHPOFreeText: Mild, FVIII: 1 to <5% (moderate HA) based on text

      CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons

      Gene: F8

      Variant: NM_000132.3:c.99G>T (p.Trp33Cys)

      ClinVar: NA

      CAID: CA414920529

      gnomAD: Not reported

      CAID:CA414920529 Mutation:Missense DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown InheritancePattern:NoInheritanceAssertion FVIIItesting:Partial CaseInfo HGNC:3546 Gene:F8 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/PMC5330775/