SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1
Gene ID: 6598, updated on 4-Jan-2025Gene type: protein coding
Also known as: RDT; CSS3; INI1; SNF5; Snr1; BAF47; INI-1; MRD15; RTPS1; Sfh1p; hSNFS; SNF5L1; SWNTS1; PPP1R144
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- Go to complete Gene record for SMARCB1
- Go to Variation Viewer for SMARCB1 variants
Summary
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, autosomal dominant 15 | See labs |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Rhabdoid tumor predisposition syndrome 1 | See labs |
| Schwannomatosis MedGen: C1335929GeneReviews: LZTR1- and SMARCB1-Related Schwannomatosis | See labs |
| SMARCB1-related schwannomatosis | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-22) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 22q11.23; 22q11
- Sequence:
- Chromosome: 22; NC_000022.11 (23786966..23838009)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMARCB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMARCB1 database
- UKE Hamburg SMARCB1 database
- Variation ViewerRelated Variants
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