Q185* (p.Gln185Ter) variant of MED13L (Q71F56)
Q185* (p.Gln185Ter) in MED13L (Q71F56) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q185* (p.Gln185Ter) variant details
- p.Gln185Ter
- rs2137446910
- ClinGen CA386872276
- ClinVar RCV001658901
- Ensembl rs2137446910
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available