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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 21 Oct 2026
      2 M/40 <1 6 Yes 21 c.8155+1G>Ta p.G2706_C2719delfsX25a (50) Homozygous

      Case: 2, M, 40, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 6, Bleeding Score: 21

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.8155+1G>T (p.Gly2706_Cys2719delfsX25), Intron 50, Homozygous

      Note: patient also has heterozygous insertion of five intronic nucleotides (GTAAG) between exons 45 and 46; c.8155+1G>T resulted in altering the normal mRNA splicing process

      DiseaseEntity:VWD3 Mutation:Intronic Zygosity:Homozygous CAID:CA383487227 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265