1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
    1
    1. ClingenBaseline 24 Oct 2026
      P22

      Case: P22, F/5

      DiseaseAssertion: VWD2A

      FamilyInfo: Positive family history, no details provided.

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 3, aPTT was 43 seconds, FVIII:C was 47%, VWF:RCo was 122 IU/dL, and VWF:Ag was 20 IU/dL, with a VWF:RCo/VWF:Ag ratio of 0.1. RIPA was normal, VWF multimer analysis was 2, and platelet count was 270 × 10⁹/L.

      CasePreviousTesting: NA

      GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

      Gene: VWF

      Variant: c.4825G>A, p.G1609R — heterozygous

      HGVS: NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)

      ClinVar: 100395

      CAID: CA228665

      gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6018593-C-T?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD2A Mutation:Missense Zygosity:Heterozygous ClinVar: 100395 CAID: CA228665 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC6660331/