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

      Case19: Patient NR (found in the GT database as well) gender and age are not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: Menorrhagia HP:0000132

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A Undetectable

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.2941C>T

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399790399

      gnomAD: N/A

      PreviouslyPublished: Reference numbers 32,22 in this article

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Zygosity:CompoundHeterozygous CAiD:CA399790399 ProteinExpression:NotReported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170