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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-282, F, 2 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: reportedly not-consanguineous. No family history of bleeding.

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: bleeding score of 17, VWF:Ag of 0, FVIII:C 4.3%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: heterozygous c.2683C>T (Gln895), c.3835G>A (p.Val1279Ile), c.3931C>T (p.Gln1311)

      HGVS: NM_000552.3:c.2683C>T, NM_000552.3:c.3835G>A, NM_000552.3:c.3931C>T

      ClinVarID: -,100288,100307

      CAID: -, CA228459, CA228496

      gnomAD: 1: not found 2: MAF of 0.002604 (27/10370 allele, Ashkenazi Jewish) https://gnomad.broadinstitute.org/variant/12-6128749-C-T?dataset=gnomad_r2_1 3:

      MultipleGeneVariants:

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD3 Mutation:Nonsense Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:100288 ClinVarID:100307 CAID:CA228459 CAID:CA228496 UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/