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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 24 Oct 2026

      Case: P60, Chinese, female, 8yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 3; VWF:Ag (%) = 37.8, VWF:RCo (%) = 35.2, FVIII:C (%) = 56.6, VWF:CB (%) = 38.6, VWFpp (%) = 41.1, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.0, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 1.5

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.5546T>C (p.Ile1849Thr)

      HGVS: NM_000038.6(APC):c.5546T>C (p.Ile1849Thr)

      ClinVarID: 654506; https://www.ncbi.nlm.nih.gov/clinvar/variation/654506/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:654506 inferred_gene_hgnc:5172 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/