Q157* (p.Gln157Ter) variant of CHM (P24386)
Q157* (p.Gln157Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q157* (p.Gln157Ter) variant details
- p.Gln157Ter
- rs1930431885
- ClinGen CA413787104
- ClinVar RCV001199666
- Ensembl rs1930431885
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)