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    Hematologically Important Mutations: Glanzmann Thrombasthenia
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    1. ClingenBaseline 25 Oct 2026
      21

      Case21: Patient MC gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: Gingival bleeding HP:0000225

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: <12% of normal

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: M_000419.3:c.3060+2T>C and NM_000419.3:c.3094dup

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290944108 and CA915940756

      gnomAD: MAF in the European (non-Finnish) population is 0.00003876 https://gnomad.broadinstitute.org/variant/17-42451720-A-G

      PreviouslyPublished: References 34-36

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Intronic Mutation:Insertion Zygosity:CompoundHeterozygous ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished CAiD:CA915940756 CAiD:CA290944108 inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170