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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 21 Oct 2026

      Case: P32, Chinese, male, 3yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: patient coexisting with severe haemophilia A; type O blood, bleeding score = 3; VWF:Ag (%) = 51.3, VWF:RCo (%) = 50.7, FVIII:C (%) = 1.0, VWF:CB (%) = 50.3, VWFpp (%) = 49.2, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.0, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 0.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.646G>A (p.Glu216Lys)

      HGVS: NM_000552.5(VWF):c.646G>A (p.Glu216Lys)

      ClinVarID: 870925; https://www.ncbi.nlm.nih.gov/clinvar/variation/870925/

      CAID: NA

      gnomAD: 0.001353 (27/19952 alleles) in East Asian population; https://gnomad.broadinstitute.org/variant/12-6204637-C-T?dataset=gnomad_r2_1

      MultipleGeneVariants

      Gene: F8

      Variant: p.Arg446Ter - Unregistered Variant

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:870925 MultipleGeneVariants inferred_gene_hgnc:10519 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/