1 Matching Annotations
  1. Last 7 days
  2. europepmc.org europepmc.org
    In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026

      Supplemental Table S1:

      Case12: Male, Italy, age not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: Moderate bleeding

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: <5% αIIbβ3 expression

      PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

      CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

      Gene: ITGA2B

      Variant: NM_000419.3:c.1742C>A (p.Ala581Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399802112

      gnomAD: N/A

      PreviouslyPublished: PMID: 12083483

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous CAiD:CA399802112 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:MinimalInformation PreviouslyPublished SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    europepmc.org/article/med/29385657