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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 24 Oct 2026
      7 M/34 <1 3 No 13 c.6551G>Ca/? p.C2184Sa/? 37/? Heterozygous

      Case: 7, M, 34, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 3, Bleeding Score: 13

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.6551G>C (p.Cys2184Ser), Exon 37, D4 domain

      Compound Heterozygous

      Note: The second mutant allele is unknown

      DiseaseEntity:VWD3 Mutation:Missense Zygosity:CompoundHeterozygous CAID:CA383490772 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265