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    Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients
    1
    1. ClingenBaseline 24 Oct 2026
      T1-2

      Case: T1-2, female, 52yo

      DiseaseAssertion: VWD1

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeText: Blood type: O+, bleeding score = 12, VWF:Ag (IU/mL) = 0.14; VWF:RCo (IU/mL) = 0.13; FVIII:C (IU/mL) = 0.46

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: qRT-PCR

      PreviouslyPublished:

      Gene: VWF

      Variant: c.221-977_532+7059del

      HGVS: NM_000552.5(VWF):c.221-977_532+7059del

      ClinVarID: 156329; https://www.ncbi.nlm.nih.gov/clinvar/variation/156329/?oq=c.221-977_532+7059del&m=NM_000552.5(VWF):c.221-977_532%207059del

      CAID: n/a

      gnomAD: absent

      CaseInfo DiseaseEntity:VWD1 Gene:VWF Mutation:Intronic Zygosity:NoAssertion ClinVarID:156329 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5960581/