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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations
    1
    1. ClingenBaseline 27 Oct 2026
      10

      Case9: No assertion made on age, gender or ethnicity

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: The identified variants were heterozygote in parents.

      CasePresentingHPOs: HP:0005542

      (Prolonged clotting time)

      CaseHPOFreeText: Bleeding time greater than 20 minutes and hematocrit of 38.1%

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: Genetic study of patient was conducted using direct sequencing of entire coding and exon-intron boundaries of the ITGA2B and ITGB3 genes.

      Gene: ITGA2B

      Variant: NM_000419.3:c.1392A>G (p.Pro464Pro)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA500273575

      gnomAD: https://gnomad.broadinstitute.org/variant/17-42458248-T-C

      CaseInfo InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Synonymous Zygosity:Homozygous CAiD:CA500273575 Individual Gene:ITGA2B PreviousTesting:Full ParentalTesting:FullPhase ProteinExpression:NotReported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC6487065/