R37C (p.Arg37Cys) variant of SMARCB1 (Q12824)
R37C (p.Arg37Cys) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes experimental measurements and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- Ensembl rs2145959935
- Pathogenic
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Pathogenic (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in CSS3)
- UniProt: Pathogenic (in CSS3)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.099