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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: P9, Chinese, male, 11yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 2; VWF:Ag (%) = 5.3, VWF:RCo (%) = 4.7, FVIII:C (%) = 10.7, VWF:CB (%) = 4.5, VWFpp (%) = 4.1, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 2.0, RIPA (1.2 mg/ml, %) = 51.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.4414G>C (p.Asp1472His)

      HGVS: NM_000552.4(VWF):c.4414G>C (p.Asp1472His)

      ClinVarID: 256679; https://www.ncbi.nlm.nih.gov/clinvar/variation/256679/

      CAID: NA

      gnomAD: MAF = 0.5077 (12039/23712 alleles; 3078 homozygotes) in the African/African-American population; https://gnomad.broadinstitute.org/variant/12-6128170-C-G?dataset=gnomad_r2_1

      Variant 2: c.8079C>A (p.Cys2693Ter)

      HGVS: NM_000552.5:c.8079C>A (p.Cys2693Ter)

      ClinVarID: NA

      CAID: CA383487414; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383487414

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Mutation:Nonsense Zygosity:CompoundHeterozygous ClinVarID:256679 CAid:CA383487414 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/