Q12* (p.Gln12Ter) variant of SMARCB1 (Q12824)
Q12* (p.Gln12Ter) 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.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs74315513
- ClinGen CA119228
- ClinVar RCV000008490
- ClinVar RCV003278655
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.646
- Cited in: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. (PMID 17357086)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)