1 Matching Annotations
  1. Last 7 days
  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: P69, Chinese, male, 12yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 3; VWF:Ag (%) = 2.8, VWF:RCo (%) = 2.5, FVIII:C (%) = 10.5, VWF:CB (%) = 3.2, VWFpp (%) = 2.7, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 3.8, RIPA (1.2 mg/ml, %) = 49.7

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.484T>C (p.Cys162Arg)

      HGVS: NM_000552.3:c.484T>C (p.Cys162Arg)

      ClinVarID: NA

      CAID: CA383518153; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383518153

      gnomAD: absent

      Variant 2: c.7884C>G (.Pro2628=) - reported to be a splice site variant

      HGVS: NM_000552.5:c.7884C>G (.Pro2628=)

      ClinVarID: NA

      CAID: CA6401487; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6401487

      gnomAD: MAF = 0.0002175 (4/18388 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6076655-G-C

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD1 Mutation:Missense Mutation:Regulatory Zygosity:CompoundHeterozygous CAid:CA383518153 CAid:CA6401487 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/28536718/