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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 22 Oct 2026
      VWD2-3†10.917.20.632110.1↓HMWM,↓IMWM28c.3829G>T§p.Asp1277TyrA1Missense2A

      Case: Croatian adult patient

      DiseaseAssertion: VWD2A

      FamilyInfo: No variant detected in a family member with VWD2

      ParentalGenotype(s): Not specified

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

      CaseHPOFreeText: Reduced VWF:Ag of 17.2%, VWF:GPIbM of 10.9%, FVIII:C of 21% and VWF:CBA of 10.1%. Reduced levels of HMWM and IMWM in multimer distribution.

      CaseNOTHPOs: Not specified

      CaseNOTHPOFreeText: Not reported.

      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.3829G>T

      HGVS: NM_000552.4:c.3829G>T (p.Asp1277Tyr)

      ClinVarID: Not available

      CAID: CA383506920

      gnomAD: Not available

      DeNovo DiseaseEntity:VWD2A Mutation:Missense Zygosity:Heterozygous CAID:CA383506920 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC9086814/