S66* (p.Ser66Ter) variant of SLC2A1 (P11166)
S66* (p.Ser66Ter) in SLC2A1 (P11166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GLUT1DS1. The record also includes structural context.
S66* (p.Ser66Ter) variant details
- p.Ser66Ter
- rs2524999421
- ClinGen CA2580062860
- ClinVar RCV002284144
- Pathogenic
- in GLUT1DS1
- Stop Gained
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available