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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: P5, Chinese, female, 65yo

      DiseaseAssertion: VWD2N

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 14; VWF:Ag (%) = 55.2, VWF:RCo (%) = 51.4, FVIII:C (%) = 1.3, VWF:CB (%) = 58.2, VWFpp (%) = 49.3, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 0.0, VWF: FVIIIB (%) = 0.1

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1911delC - unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.2446C>T (p.Arg816Trp)

      HGVS: NM_000552.4(VWF):c.2446C>T (p.Arg816Trp)

      ClinVarID: 295; https://www.ncbi.nlm.nih.gov/clinvar/variation/295/

      CAID: NA

      gnomAD: MAF = 0.0002541 (9/35418 alleles) in the Latino/Admixed American population; https://gnomad.broadinstitute.org/variant/12-6145654-G-A?dataset=gnomad_r2_1

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2N Mutation:Frameshift Mutation:Missense Zygosity:CompoundHeterozygous UnregisteredVariant ClinVarID:295 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/