Q12R (p.Gln12Arg) variant of SMARCB1 (Q12824)
Q12R (p.Gln12Arg) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- rs2517652580
- ClinGen CA410930605
- ClinVar RCV002455178
- ClinVar RCV003546766
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.646
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)