Q46* (p.Gln46Ter) variant of SLC35A2 (UDP-galactose translocator)
Q46* (p.Gln46Ter) 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.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- rs2147496735
- ClinGen CA412897972
- ClinVar RCV001956129
- Ensembl rs2147496735
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available