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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: P17, Chinese, female, 20yo

      DiseaseAssertion: VWD2M

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 10; VWF:Ag (%) = 17.6, VWF:RCo (%) = 7.3, FVIII:C (%) = 35.8, VWF:CB (%) = 15.8, VWFpp (%) = 51.9, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 2.9, FVIII:C/VWF:Ag = 2.0

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3389G>T (p.Cys1130Phe)

      HGVS: NM_000552.4(VWF):c.3389G>T (p.Cys1130Phe)

      ClinVarID: 100261; https://www.ncbi.nlm.nih.gov/clinvar/variation/100261/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD2M Mutation:Missense Zygosity:Heterozygous ClinVarID:100261 inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/