L48* (p.Leu48Ter) variant of NBN (Nibrin)
L48* (p.Leu48Ter) in NBN (Nibrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L48* (p.Leu48Ter) variant details
- p.Leu48Ter
- rs2129924518
- ClinGen CA371662994
- ClinVar RCV001959178
- Ensembl rs2129924518
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)