R45* (p.Arg45Ter) variant of NIPBL (Nipped-B-like protein)
R45* (p.Arg45Ter) in NIPBL (Nipped-B-like protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- rs80358367
- ClinGen CA267522
- cosmic curated COSV56963
- ClinVar RCV000086366
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)