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: P80, Chinese, female, 1yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type B blood, bleeding score = 6; VWF:Ag (%) = 0.8, VWF:RCo (%) = 1.0, FVIII:C (%) = 3.0, VWF:CB (%) = 0.7, VWFpp (%) = 0.6, VWF:RCo/VWF:Ag = 1.3, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 3.8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.4725delG - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 2: c.6099C>G (p.Tyr2033Ter)

      HGVS: NM_000552.5:c.6099C>G (p.Tyr2033Ter)

      ClinVarID: NA

      CAID: CA383492399; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383492399

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:CompoundHeterozygous Mutation:Frameshift Mutation:Nonsense UnregisteredVariant CAid:CA383492399 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

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