1 Matching Annotations
  1. Last 7 days
  2. Local file Local file
    Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes alpha
    1
    1. ClingenBaseline 24 Oct 2026
      LeuFC

      Case10: Patient FC

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs:

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: N/A

      CasePreviousTesting: The amplification of DNA fragments using PCR and their electrophoretic migration through a denaturing gradient was used to scan the entire coding region, splice site junctions and promoter regions of the GPIIb and GPIIIa genes for all 20 patients in this study

      Gene: ITGA2B

      Variant: NM_000419.3:c.2540T>C (p.Leu847Pro)

      LegacyVariant: (p.Leu816Pro)

      ClinVar: N/A

      CAiD: CA399794666

      gnomAD: MAF in the African population is 0.00006443 https://gnomad.broadinstitute.org/variant/17-42453262-A-G

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Homozygous PreviousTesting:Full CAiD:CA399794666 ProteinExpression:NotReported PlateletAggregation:NotReported inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

    Tags

    Annotators