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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 24 Oct 2026

      Case: P86, Chinese, female, 20yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 14; VWF:Ag (%) = 0.5, VWF:RCo (%) = <0.5, FVIII:C (%) = 5.7, VWF:CB (%) = <0.5, VWFpp (%) = <0.5`, VWF:RCo/VWF:Ag = NA, VWF:CB/VWF:Ag = NA, VWFpp/VWF:Ag = NA, FVIII:C/VWF:Ag = 11.4

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.322A>T (p.Arg108Ter)

      HGVS: NM_000552.5:c.322A>T (p.Arg108Ter)

      ClinVarID: NA

      CAID: CA383519152; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383519152

      gnomAD: absent

      Variant: Exons 6–16 del - unregistered variant

      HGVS:

      ClinVarID:

      CAID:

      gnomAD:

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense Mutation:Large CAid:CA383519152 UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/