Q113* (p.Gln113Ter) variant of ITGA2B (Integrin alpha-IIb)
Q113* (p.Gln113Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q113* (p.Gln113Ter) variant details
- p.Gln113Ter
- rs2510085242
- ClinGen CA399806223
- ClinVar RCV002281026
- ClinVar RCV002511149
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available