L113* (p.Leu113Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
L113* (p.Leu113Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L113* (p.Leu113Ter) variant details
- p.Leu113Ter
- rs2040373653
- ClinGen CA385987649
- ClinVar RCV001202458
- Ensembl rs2040373653
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)