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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 25 Oct 2026

      Case: P59, Chinese, female, 7yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 7; VWF:Ag (%) = 1.4, VWF:RCo (%) = 1.0, FVIII:C (%) = 3.9, VWF:CB (%) = 1.3, VWFpp (%) = 1.2, VWF:RCo/VWF:Ag = 0.7, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 2.8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.2964C>A (p.Tyr988Ter)

      HGVS: NM_000552.5:c.2964C>A (p.Tyr988Ter)

      ClinVarID: NA

      CAID: CA383516120; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383516120

      gnomAD: absent

      Variant 2: c.6540T>G (p.Tyr2180Ter)

      HGVS: NM_000552.5:c.6540T>G (p.Tyr2180Ter)

      ClinVarID: NA

      CAID: CA383490834; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383490834

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense CAid:CA383516120 CAid:CA383490834 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/