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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
      3 F/5 <1 4 Yes 9 c.658–2A>Ga p.G220_S292delfsX27a (6) Homozygous

      Case: 3, F, 5, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 4, Bleeding Score: 9

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.658–2A>G (p.Gly220_Ser292delfsX27), Intron 6, Homozygous

      Note: patient also has homozygous deletion of 217 bp (NP_000543.2, where 1 is adenine in ATG initiation codon) due to the skipping of exon 7; c.658–2A>G resulted in altering the normal mRNA splicing process

      DiseaseEntity:VWD3 Mutation:Intronic Zygosity:Homozygous CAID:CA383509559 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265