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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type-3 von Willebrand disease in India—Clinical spectrum and molecular profile
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    1. ClingenBaseline 21 Oct 2026

      Case#: Elayaperumal_2018_V-260 , M, 3y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: consanguinity reported. No family history of bleeding

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: bleeding score of 9, VWF:Ag of 0, FVIII:C of 7.4%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.665G>A (p.Trp222*)

      HGVS: NM_000552.3:c.665G>A

      ClinVarID: not found

      CAID: CA383509511

      gnomAD: not found

      MultipleGeneVariants: n/a

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD3 AlleleOrigin:Germline Mutation:Nonsense Zygosity:Homozygous CAID:CA383509511 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/