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    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      9LMIHomozygote1346G

      Case9: Patient LM (can be found in the GT database) gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A Not reported for this proband

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Undetectable for this patient

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.1346G>A (p.Gly449Asp)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399803552

      gnomAD: N/A

      PreviouslyPublished: Reference number 20 in this article

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA399803552 ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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