Y103* (p.Tyr103Ter) variant of CHM (P24386)
Y103* (p.Tyr103Ter) 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.
Y103* (p.Tyr103Ter) variant details
- p.Tyr103Ter
- rs897855683
- ClinGen CA413787770
- ClinVar RCV001917115
- TOPMed rs897855683
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)