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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-319, F, 8 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: No, Family history: Yes

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: Bleeding score: 14, VWF:Ag 0, FVIII:C <1%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.6090dupT (p.Val2031Lysfs*19)

      HGVS: NM_000552.3:c.6090dupT

      ClinVarID: not present

      CAID: CA2824998272

      gnomAD: not present

      MultipleGeneVariants:

      CIAD:CA2824998272 InheritancePattern:AutosomalRecessive Zygosity:Homozygous Mutation:Frameshift DiseaseEntity:VWD3 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/