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    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      6BLIIHomozygote563C

      Case27: Patient BL

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000978, HP:0000421, HP:0000225

      (Bruising, epistaxis, gingival bleeding)

      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.563C>T (p.Ser188Leu)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA8622981

      gnomAD: MAF in the European non Finnish population is 0.000008793 https://gnomad.broadinstitute.org/variant/17-45362010-C-T

      PreviouslyPublished: Reference 44

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished CAiD:CA8622981 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S1079979697901170