Y139* (p.Tyr139Ter) variant of SMARCE1 (Q969G3)
Y139* (p.Tyr139Ter) in SMARCE1 (Q969G3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y139* (p.Tyr139Ter) variant details
- p.Tyr139Ter
- rs1555605752
- ClinGen CA399366628
- ClinVar RCV000568108
- Ensembl rs1555605752
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)