C74* (p.Cys74Ter) variant of SLC6A1 (P30531)
C74* (p.Cys74Ter) in SLC6A1 (P30531) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C74* (p.Cys74Ter) variant details
- p.Cys74Ter
- rs139045747
- ClinGen CA351788446
- ClinVar RCV000578848
- ESP rs139045747
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available