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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease
    1
    1. ClingenBaseline 24 Oct 2026
      c.571T>C

      Case: Croatian adult patient

      DiseaseAssertion: VWD3

      FamilyInfo: Not specified

      ParentalGenotype(s): Not specified

      CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342

      CaseHPOFreeText: <4.0% VWF:Ag, <4.0% VWF:GPIbM, 5% FVIII:C and <1% VWF:CBA.

      CaseNOTHPOs: Not specified

      CaseNOTHPOFreeText: Not specified.

      CasePreviousTesting: Not reported

      GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.

      PreviouslyPublished: None

      Gene: VWF

      Variant: c.571T>C

      HGVS: NM_000552.4:c.571T>C (p.Trp191Arg)

      ClinVarID: Not available

      CAID: CA383514932

      gnomAD: Not available

      DeNovo DiseaseEntity:VWD3 Mutation:Missense Zygosity:Heterozygous CAID:CA383514932 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC9086814/