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 25 Oct 2026

      Case: P8, Chinese, male 3yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 5; VWF:Ag (%) = 2.1, VWF:RCo (%) = 1.7, FVIII:C (%) = 4.8, VWF:CB (%) = 1.5, VWFpp (%) = 2.3, VWF:RCo/VWF:Ag = 0.8, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 2.3

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1025_1032dup - unregistered variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.7969C>T (p.Gln2657Ter)

      HGVS: NM_000552.5:c.7969C>T (p.Gln2657Ter)

      ClinVarID: NA

      CAID: CA383487678; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383487678

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Frameshift Mutation:Nonsense UnregisteredVariant CAid:CA383487678 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

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