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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: P55, Chinese, female, 24yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 8; VWF:Ag (%) = 35.2, VWF:RCo (%) = 14.5, FVIII:C (%) = 57.9, VWF:CB (%) = 6.5, VWFpp (%) = 21.5, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 0.2, VWFpp/VWF:Ag = 0.6, FVIII:C/VWF:Ag = 1.6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1099T>G (p.Cys367Gly)

      HGVS: NM_000552.5:c.1099T>G (p.Cys367Gly)

      ClinVarID: NA

      CAID: CA383505165; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383505165

      gnomAD: absent

      Variant 2: c.1450_1451delinsAG (p.His484Se) - Unregisted Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 3: c.2423G>A (p.Cys808Tyr)

      HGVS: NM_000552.5:c.2423G>A (p.Cys808Tyr)

      ClinVarID: NA

      CAID: CA383521928; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383521928

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2A Mutation:Missense Zygosity:CompoundHeterozygous UnregisteredVariant CAid:CA383505165 CAid:CA383521928 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/