L146* (p.Leu146Ter) variant of CHM (P24386)
L146* (p.Leu146Ter) 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.
L146* (p.Leu146Ter) variant details
- p.Leu146Ter
- rs2147676177
- ClinGen CA413787192
- ClinVar RCV002249359
- ClinVar RCV003101341
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)