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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 25 Oct 2026

      Case#: Elayaperumal_2018_V-307 , F, 1 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: consanguinity reported. family history negative

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: Bleeding score 4, VWF:Ag 0, FVIII:C 1.6%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.2443-1G>C

      HGVS: NM_000552.3:c.2443-1G>C

      ClinVarID: 100222

      CAID: CA228342

      gnomAD: Popmax (-). MAF 0.000008796 (1/113692) in the European (non-Finnish) population. No homozygotes reported.

      MultipleGeneVariants:

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Intronic ClinVarID:100222 CAID:CA228342 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/