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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-316, F, 1.5 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes, Family history: Yes

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: Bleeding score: 0, VWF:Ag 0, FVIII:C 3.4%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.2749 2752dupCCCT (p.Val919Leufs*18)

      HGVS: NM_000552.3:c.2749 2752dupCCCT

      ClinVarID: not present

      CAID: CA2695215955

      gnomAD: not present

      MultipleGeneVariants:

      InheritancePattern:AutosomalRecessive Zygosity:Homozygous Mutation:Frameshift DiseaseEntity:VWD3 CAID:CA2695215955 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/