Q78* (p.Gln78Ter) variant of CHM (P24386)
Q78* (p.Gln78Ter) 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.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs2147706580
- ClinGen CA413788054
- ClinVar RCV001534620
- Ensembl rs2147706580
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)