G69S (p.Gly69Ser) variant of ITGA2B (Integrin alpha-IIb)
G69S (p.Gly69Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia 1. The record also includes structural context.
G69S (p.Gly69Ser) variant details
- p.Gly69Ser
- rs2510085563
- ClinGen CA399806513
- ClinVar RCV002281027
- Uncertain significance
- Glanzmann thrombasthenia 1
- Missense
- ClinVar: Uncertain significance (Glanzmann thrombasthenia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available