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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 25 Oct 2026

      Case: P63, Chinese, female, 23yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 15; VWF:Ag (%) = 1.2, VWF:RCo (%) = 0.5, FVIII:C (%) = 5.9, VWF:CB (%) = 0.6, VWFpp (%) = 0.5, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 0.5, VWFpp/VWF:Ag = 0.4, FVIII:C/VWF:Ag = 4.9

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.817C>T (p.Arg273Trp)

      HGVS: NM_000552.4(VWF):c.817C>T (p.Arg273Trp)

      ClinVarID: 100493; https://www.ncbi.nlm.nih.gov/clinvar/variation/100493/

      CAID: NA

      gnomAD: MAF = 0.00005288 (6/113462 alleles) in the European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6184558-G-A?dataset=gnomad_r2_1

      Variant 2: c.5335C>T (p.Arg1779Ter)

      HGVS: NM_000552.4(VWF):c.5335C>T (p.Arg1779Ter)

      ClinVarID: 100425; https://www.ncbi.nlm.nih.gov/clinvar/variation/100425/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Missense Mutation:Nonsense ClinVarID:100493 ClinVarID:100425 inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/