E49* (p.Glu49Ter) variant of NIPBL (Nipped-B-like protein)
E49* (p.Glu49Ter) 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.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- rs587783886
- ClinGen CA271971
- ClinVar RCV000146520
- Ensembl rs587783886
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)