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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: P15, Chinese, female, 52yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 15; VWF:Ag (%) = 1.5, VWF:RCo (%) = 1.6, FVIII:C (%) = 7.1, VWF:CB (%) = 1.1, VWFpp (%) = 1.2, VWF:RCo/VWF:Ag = 1.1, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 4.7

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.813C>A (p.Tyr271Ter)

      HGVS: NM_000552.5:c.813C>A (p.Tyr271Ter)

      ClinVarID: NA

      CAID: CA383508534; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383508534

      gnomAD: absent

      Variant 2: c.893dup (p.Met299fs)

      HGVS: NM_000552.4(VWF):c.893dup (p.Met299fs)

      ClinVarID: 100511; https://www.ncbi.nlm.nih.gov/clinvar/variation/100511/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense Mutation:Frameshift CAid:CA383508534 ClinVarID:100511 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/