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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 23 Oct 2026

      Case: P64, Chinese, female, 2yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 7; VWF:Ag (%) = 1.3, VWF:RCo (%) = 1.1, FVIII:C (%) = 4.0, VWF:CB (%) = 1.5, VWFpp (%) = 0.9, VWF:RCo/VWF:Ag = 0.8, VWF:CB/VWF:Ag = 1.2, VWFpp/VWF:Ag = 0.7, FVIII:C/VWF:Ag = 3.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.196C>T (p.Gln66Ter)

      HGVS: NM_000552.5:c.196C>T (p.Gln66Ter)

      ClinVarID: NA

      CAID: CA383507653; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383507653

      gnomAD: absent

      Variant 2: c.4457C>A (p.Ser1486Ter)

      HGVS: NM_000552.5:c.4457C>A (p.Ser1486Ter)

      ClinVarID: NA

      CAID: CA383501822; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383501822

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense CAid:CA383507653 CAid:CA383501822 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/