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    Hematologically Important Mutations: Glanzmann Thrombasthenia
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    1. ClingenBaseline 23 Oct 2026
      SH

      Case32: Patient SH

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: 20% GPIIIa and GPIIb surface expression

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.725G>A (p.Arg242Gln)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA291224896

      gnomAD: N/A

      PreviouslyPublished: Reference number 5 in this article

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous CAiD:CA291224896 ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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