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    1. ClingenBaseline 22 Oct 2026
      14CabGT-14

      Case14: (Proband CabGT-14), Female, age not specified, North African

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      ProteinExpression: Flow cytometry showed <5% GPIIIa and GPIIb surface expression

      Platelet Aggregation: N/A

      CasePreviousTesting: Promoter and exon sequences of aIIb and b3 genes were amplified and directly sequence

      Gene: ITGA2B

      Variant: NM_000419.3:c.2748_2757del (p.T917Sfs181)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA290946532

      gnomAD MAF in the African population is 0.0001150 https://gnomad.broadinstitute.org/variant/17-42452449-GCACCACAGTA-G

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Frameshift Mutation:Large Zygosity:Homozygous CAiD:CA290946532 ProteinExpression:Reported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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