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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: P85, Chinese, female, 29yo

      DiseaseAssertion: VWD2N

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 2; VWF:Ag (%) = 11.0, VWF:RCo (%) = 10.9, FVIII:C (%) = 6.5, VWF:CB (%) = 11.3, VWFpp (%) = 11.0, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.0, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 0.6, VWF: FVIIIB (%) = 0.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.855G>A (p.Trp285Ter)

      HGVS: NM_000552.5:c.855G>A (p.Trp285Ter)

      ClinVarID: NA

      CAID: CA383508140; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383508140

      gnomAD: absent

      Variant 2: c.2574C>G (p.Cys858Trp)

      HGVS: NM_000552.5:c.2574C>G (p.Cys858Trp)

      ClinVarID: NA

      CAID: CA232299278; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232299278

      gnomAD: MAF = 0.0001002 (2/19954 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6143965-G-C

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2N Mutation:Nonsense Mutation:Missense CAid:CA383508140 CAid:CA232299278 Zygosity:CompoundHeterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/