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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 21 Oct 2026

      Case: P27, Chinese, female, 3yo

      DiseaseAssertion: VWD2N

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 6; VWF:Ag (%) = 9.5, VWF:RCo (%) = 8.9, FVIII:C (%) = 6.5, VWF:CB (%) = 6.9, VWFpp (%) = 10.8, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 0.7, VWF: FVIIIB (%) = 0.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.2396G>A (p.Cys799Tyr)

      HGVS: NM_000552.5:c.2396G>A (p.Cys799Tyr)

      ClinVarID: NA

      CAID: CA232300402; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232300402

      gnomAD: absent

      Variant 2: c.3197_3201del - unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2N InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Missense UnregisteredVariant Mutation:Frameshift CAid:CA232300402 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/