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    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 21 Oct 2026
      VWD3-4‡8.3<4.05<1.0436c.319C>T§c.6151A>T§p.Gln107Terp.Arg2051TerD1D4Stop gainedStop gainedHeterozygousHeterozygous

      Case: Croatian adult patient

      DiseaseAssertion: VWD3

      FamilyInfo: No variant detected in a family member with VWD3.

      ParentalGenotype(s): Not specified

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

      CaseHPOFreeText: Reduced VWF:Ag of <4.0%, VWF:GPIbM of 8.3%, FVIII:C of 5% and VWF:CBA below 1%.

      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.6151A>T

      HGVS: NM_000552.4:c.6151A>T (c.6151A>T)

      ClinVarID: Not available

      CAID: CA383492290

      gnomAD: Not available

      DeNovo Mutation:Nonsense DiseaseEntity:VWD3 Zygosity:Heterozygous CAID:CA383492290 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC9086814/