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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 24 Oct 2026

      Case#: Elayaperumal_2018_V-289 , F, 3 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: consanguinity, positive family history

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: Bleeding score 14, VWF:Ag of 0, FVIII:C 1.7%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.311_312delAG

      HGVS: NM_000552.3:c.311_312delAG (p.Gln104ArgfsTer19)

      ClinVarID: 1065296

      CAID: CA690612114

      gnomAD: not found

      MultipleGeneVariants:

      FamilyInfo DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Mutation:Frameshift Zygosity:Homozygous ClinVarID:1065296 CAID:CA690612114 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/