Q18* (p.Gln18Ter) variant of SMARCB1 (Q12824)
Q18* (p.Gln18Ter) in SMARCB1 (Q12824) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs1928044707
- ClinGen CA410930729
- NCI-TCGA Cosmic COSV5315
- cosmic curated COSV53157
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.062