E152* (p.Glu152Ter) variant of CHM (P24386)
E152* (p.Glu152Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E152* (p.Glu152Ter) variant details
- p.Glu152Ter
- rs2520273128
- ClinGen CA2580612438
- ClinVar RCV003314490
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)