S28* (p.Ser28Ter) variant of CHM (P24386)
S28* (p.Ser28Ter) 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.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs2147791162
- ClinGen CA413787996
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)