1 Matching Annotations
  1. Last 7 days
  2. reader.elsevier.com reader.elsevier.com
    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      PDJ

      Case28: Patient PDJ

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.709_710del

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8623029

      gnomAD: MAF in the European non Finnish population is 0.00001796 https://gnomad.broadinstitute.org/variant/17-45363717-CAG-C

      PreviouslyPublished: Reference 45

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Large ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished CAiD:CA8623029 Zygosity:Heterozygous inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    reader.elsevier.com/reader/sd/pii/S1079979697901170