E125* (p.Glu125Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E125* (p.Glu125Ter) 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.
E125* (p.Glu125Ter) variant details
- p.Glu125Ter
- rs2040371663
- ClinGen CA385987450
- ClinVar RCV001267299
- Ensembl rs2040371663
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)