Q25* (p.Gln25Ter) variant of NIPBL (Nipped-B-like protein)
Q25* (p.Gln25Ter) in NIPBL (Nipped-B-like protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs2478986417
- ClinGen CA359473751
- ClinVar RCV003404183
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available