SMARCB1 gene homepage

General information
Gene symbol SMARCB1
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Chromosome 22
Chromosomal band q11.23
Imprinted Unknown
Genomic reference NG_009303.1
Transcript reference NM_003073.3
Exon/intron information NM_003073.3 exon/intron table
Associated with diseases CSS, CSS-3, ID, RTPS-1, SWNTS, SWNTS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ludwine Messiaen
Total number of public variants reported 393
Unique public DNA variants reported 148
Individuals with public variants 344
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated February 26, 2019
Version SMARCB1:190226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003073.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 11103
Entrez Gene 6598
PubMed articles SMARCB1
OMIM - Gene 601607
OMIM - Diseases CSS-3 (MRD-15)
RTPS-1 (tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1))
SWNTS-1 (Schwannomatosis, type 1 (SWNTS-1))
GeneCards SMARCB1
GeneTests SMARCB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00019423 22 transcript variant 1 NM_003073.3 NP_003064.2 393

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.