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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: P57, Chinese, male, 28yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type AB blood, bleeding score = 5; VWF:Ag (%) = 33.4, VWF:RCo (%) = 3.2, FVIII:C (%) = 49.2, VWF:CB (%) = 4.8, VWFpp (%) = 67.3, VWF:RCo/VWF:Ag = 0.1, VWF:CB/VWF:Ag = 0.1, VWFpp/VWF:Ag = 2.0, FVIII:C/VWF:Ag = 1.5, RIPA (0.5 mg/ml, %) = 18.2, PLT(×109/l) = 146

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.2089G>C (p.Glu697Gln)

      HGVS: NM_000552.5:c.2089G>C (p.Glu697Gln)

      ClinVarID: NA

      CAID: CA383494704; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383494704

      gnomAD: absent

      Variant 2: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Variant 3: c.8113G>A (p.Gly2705Arg)

      HGVS: NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg)

      ClinVarID: 256702; https://www.ncbi.nlm.nih.gov/clinvar/variation/256702/

      CAID: NA

      gnomAD: MAF = 0.1254 (3839/30614 alleles; 279 homozygotes)

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B Mutation:Missense Zygosity:CompoundHeterozygous InheritancePattern:AutosomalRecessive CAid:CA383494704 ClinVarID:289 ClinVarID:256702 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/