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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: P90, Chinese, female, 30yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 12; VWF:Ag (%) = 10.1, VWF:RCo (%) = 3.3, FVIII:C (%) = 10.7, VWF:CB (%) = 2.6, VWFpp (%) = 151.7, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.3, VWFpp/VWF:Ag = 15.0, FVIII:C/VWF:Ag = 1.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1730-2A>G

      HGVS: NM_000552.4(VWF):c.1730-2A>G

      ClinVarID: 100189; https://www.ncbi.nlm.nih.gov/clinvar/variation/100189/

      CAID: NA

      gnomAD: absent

      Variant 2: c.6979T>A (p.Cys2327Ser)

      HGVS: NM_000552.3:c.6979T>A (p.Cys2327Ser)

      ClinVarID: NA

      CAID: CA383492042; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383492042

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2A Mutation:Regulatory Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:100189 CAid:CA383492042 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/