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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 25 Oct 2026

      Case: P44, Chinese, male, 6yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 6; VWF:Ag (%) = 43.6, VWF:RCo (%) = 18.3, FVIII:C (%) = 38.7, VWF:CB (%) = 16.7, VWFpp (%) = 64.8, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 0.4, VWFpp/VWF:Ag = 1.5, FVIII:C/VWF:Ag = 0.9

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1870G>A (p.Gly624Ser)

      HGVS: NM_000552.4(VWF):c.1870G>A (p.Gly624Ser)

      ClinVarID: 619737; https://www.ncbi.nlm.nih.gov/clinvar/variation/619737/

      CAID: NA

      gnomAD: MAF = 0.004886 (59/12076 alleles; 1 homozygote) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6166098-C-T?dataset=gnomad_r2_1

      Variant 2: c.4883T>C (p.Ile1628Thr)

      HGVS: NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr)

      ClinVarID: 284; https://www.ncbi.nlm.nih.gov/clinvar/variation/284/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2A Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:619737 ClinVarID:284 inferred_gene_hgnc:11998 inferred_gene_source:ClinVar ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/