E31* (p.Glu31Ter) variant of SMARCB1 (Q12824)
E31* (p.Glu31Ter) in SMARCB1 (Q12824) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- rs2145952184
- ClinGen CA410931032
- ClinVar RCV001967437
- ClinVar RCV006554634
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.533
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)