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    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      LeM

      Case10: Patient LeM (found in the GT database) gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000979, HP:0000967 (Purpura/petechiae)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: <5% of normal expression

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.1366_1371del

      LegacyVariant: N/A

      ClinVar: 2898

      CAiD: CA8603160

      gnomAD: MAF in the European (non-Finnish) population is 0.000008791 https://gnomad.broadinstitute.org/variant/17-42458268-TGTCTAC-T

      PreviouslyPublished: Reference number 21 in this article

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Large Zygosity:CompoundHeterozygous ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished ClinVarID:2898 CAiD:CA8603160 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170