L54* (p.Leu54Ter) variant of NIPBL (Nipped-B-like protein)
L54* (p.Leu54Ter) 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.
L54* (p.Leu54Ter) variant details
- p.Leu54Ter
- rs1740842785
- ClinGen CA359474218
- ClinVar RCV001195989
- Ensembl rs1740842785
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)