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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
    1
    1. ClingenBaseline 23 Oct 2026
      1 M/10 <1 5 NR 7 c.6634T>Ca p.C2212Ra 38 Homozygous

      Case: 1, M, 10, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: not reported

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 5, Bleeding Score: 7

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.6634T>C (p.Cys2212Arg), Exon 38, D4 domain, Homozygous

      Note: parents investigated for the probands defects and confirmed to carry the expected mutation at the heterozygous state

      DiseaseEntity:VWD3 Mutation:Missense Zygosity:Homozygous CAID:CA383490202 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265