S32* (p.Ser32Ter) variant of GABRG2 (P18507)
S32* (p.Ser32Ter) in GABRG2 (P18507) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- rs1758361435
- ClinGen CA362181898
- ClinVar RCV001060789
- Ensembl rs1758361435
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available