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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: P47, Chinese, female, 23yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 12; VWF:Ag (%) = 4.5, VWF:RCo (%) = 3.3, FVIII:C (%) = 36.5, VWF:CB (%) = 4.2, VWFpp (%) = 5.3, VWF:RCo/VWF:Ag = 0.7, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 1.2, FVIII:C/VWF:Ag = 8.1, RIPA (1.2 mg/ml, %) = 55.9

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.100C>T (p.Arg34Ter)

      HGVS: NM_000552.4(VWF):c.100C>T (p.Arg34Ter)

      ClinVarID: 100171; https://www.ncbi.nlm.nih.gov/clinvar/variation/100171/

      CAID: NA

      gnomAD: MAF = 0.00002645 (3/113436 alleles) in the European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6230460-G-A?dataset=gnomad_r2_1

      Variant 2: c.6860G>A (p.Arg2287Gln)

      HGVS: NM_000552.3:c.6860G>A (p.Arg2287Gln)

      ClinVarID: NA

      CAID: CA6401877; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6401877

      gnomAD: MAF = 0.005415 (108/19946 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6094770-C-T

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:100171 CAid:CA6401877 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/