E106D (p.Glu106Asp) variant of ITGA2B (Integrin alpha-IIb)
E106D (p.Glu106Asp) 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. The record also includes structural context.
E106D (p.Glu106Asp) variant details
- p.Glu106Asp
- rs2510085264
- ClinGen CA399806261
- ClinVar RCV002839082
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available