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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 23 Oct 2026

      Case: P79, Chinese, female, 24yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 9; VWF:Ag (%) = 0.5, VWF:RCo (%) = <0.5, FVIII:C (%) = 5.7, VWF:CB (%) = <0.5, VWFpp (%) = <0.5, VWF:RCo/VWF:Ag = NA, VWF:CB/VWF:Ag = NA, VWFpp/VWF:Ag = NA, FVIII:C/VWF:Ag = 11.4

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1093C>T (p.Arg365Ter)

      HGVS: NM_000552.4(VWF):c.1093C>T (p.Arg365Ter)

      ClinVarID: 100172; https://www.ncbi.nlm.nih.gov/clinvar/variation/100172/

      CAID: NA

      gnomAD: absent

      Variant 2: c.4975C>T (p.Arg1659Ter)

      HGVS: NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter)

      ClinVarID: 297; https://www.ncbi.nlm.nih.gov/clinvar/variation/297/

      CAID: NA

      gnomAD: MAF = 0.0004007 (10/24958 alleles) in the European (Finnish) population; https://gnomad.broadinstitute.org/variant/12-6127609-G-A?dataset=gnomad_r2_1

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Nonsense ClinVarID:100172 ClinVarID:297 inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/