S63* (p.Ser63Ter) variant of NIPBL (Nipped-B-like protein)
S63* (p.Ser63Ter) 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.
S63* (p.Ser63Ter) variant details
- p.Ser63Ter
- rs1740845459
- ClinGen CA359474373
- ClinVar RCV001089569
- Ensembl rs1740845459
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)