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
      P21

      Case: P21, F/5

      DiseaseAssertion: VWD2M

      FamilyInfo: Positive family history, no details provided.

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 2, aPTT was 53 seconds, FVIII:C was 30%, and VWF:RCo was 25 IU/dL. The VWF:RCo/VWF:Ag ratio indicated a mild loss of high molecular weight multimers. RIPA was 4, VWF multimer analysis was 301, and platelet count was not specified.

      CasePreviousTesting: NA

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

      Gene: VWF

      Variant: c.4121G>T, p.R1374L — heterozygous

      HGVS: NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)

      ClinVar: 100331

      CAID: CA228543

      gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6019297-C-A?dataset=gnomad_r4

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD2M Mutation:Missense Zygosity:Heterozygous ClinVar: 100331 CAID: CA228543 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

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