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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
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    1. ClingenBaseline 22 Oct 2026

      Case: P18, Chinese, male, 23yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 7; VWF:Ag (%) = 25.0, VWF:RCo (%) = 5.2, FVIII:C (%) = 39.0, VWF:CB (%) = 6.7, VWFpp (%) = 49.6, VWF:RCo/VWF:Ag = 0.2, VWF:CB/VWF:Ag = 0.3, VWFpp/VWF:Ag = 2.0, FVIII:C/VWF:Ag = 1.6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.4735G>A (p.Gly1579Arg)

      HGVS: NM_000552.4(VWF):c.4735G>A (p.Gly1579Arg)

      ClinVarID: 100385; https://www.ncbi.nlm.nih.gov/clinvar/variation/100385/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD2A Mutation:Missense Zygosity:Heterozygous ClinVarID:100385 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/