Q129* (p.Gln129Ter) variant of SLC35A2 (UDP-galactose translocator)
Q129* (p.Gln129Ter) in SLC35A2 (UDP-galactose translocator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q129* (p.Gln129Ter) variant details
- p.Gln129Ter
- rs2147489558
- ClinGen CA412896507
- ClinVar RCV001997611
- Ensembl rs2147489558
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available