E8* (p.Glu8Ter) variant of CHM (P24386)
E8* (p.Glu8Ter) 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.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- rs1603288832
- ClinGen CA413788688
- ClinVar RCV000787004
- ClinVar RCV001092880
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)