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    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 26 Oct 2026
      LD

      Case34: Patient LD

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: 30% GPIIIa and GPIIb surface expression

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.847del and NM_000212.2:c.863T>C

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940765 and CA400024958

      gnomAD: N/A

      PreviouslyPublished: Reference 56

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion Mutation:Missense Zygosity:CompoundHeterozygous ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished CAiD:CA915940765 CAiD:CA400024958 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170