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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex ® technique
    1
    1. ClingenBaseline 22 Oct 2026

      Case: P31, Chinese, female, 21yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 15; VWF:Ag (%) = 1.0, VWF:RCo (%) = 0.7, FVIII:C (%) = 4.1, VWF:CB (%) = 0.8, VWFpp (%) = 0.8, VWF:RCo/VWF:Ag = 0.7, VWF:CB/VWF:Ag = 0.8, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 4.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.953_954insG - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.4368C>G (p.Tyr1456Ter)

      HGVS: NM_000552.4(VWF):c.4368C>G (p.Tyr1456Ter)

      ClinVarID: 100350; https://www.ncbi.nlm.nih.gov/clinvar/variation/100350/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Frameshift Mutation:Nonsense UnregisteredVariant ClinVarID:100350 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/