Gene entry
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
- Chromosome
- 22
- Cytoband
- 22q11.23|22q11
- Variants (rsID)
- 12
SMARCB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q11.23|22q11). Its official name is “SWI/SNF related BAF chromatin remodeling complex subunit B1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs398122368Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 15|SMARCB1-related BAFopathy
- rs757546528Conflicting interpretationssingle nucleotide variant
- rs35502837Likely benignsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.