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

      Case22: Patient AP, gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000421, HP:0000225, HP:0006298

      (Epistaxis, gingival bleeding, prolonged bleeding after tooth extraction)

      CaseHPOFreeText: Hematoma

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: 12-20% GPIIIa and GPIIb surface expression

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.3077G>A (p.Arg1026Gln) other mutation was not found

      LegacyVariant: N/A

      ClinVar: 50232

      CAiD: CA10575572

      gnomAD: MAF in the European (non-Finnish) population is 0.000008801 https://gnomad.broadinstitute.org/variant/17-42449775-C-T

      PreviouslyPublished: References 37 and 38

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:CompoundHeterozygous ClinVarID:50232 CAiD:CA10575572 ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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