R52* (p.Arg52Ter) variant of GRIN2A (Q12879)
R52* (p.Arg52Ter) in GRIN2A (Q12879) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R52* (p.Arg52Ter) variant details
- p.Arg52Ter
- cosmic curated COSV58050
- Ensembl rs1555491518
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available