Y43* (p.Tyr43Ter) variant of CHM (P24386)
Y43* (p.Tyr43Ter) 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.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- rs2520327814
- ClinGen CA413788369
- ClinVar RCV002309207
- ClinGen CA413788368
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)