Y16* (p.Tyr16Ter) variant of NBN (Nibrin)
Y16* (p.Tyr16Ter) 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.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- rs2129926091
- ClinGen CA371663676
- ClinVar RCV001385181
- ClinVar RCV003399206
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)