View SMARCAL1 gene homepage

General information
Gene symbol SMARCAL1
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference LRG_108
Transcript reference NM_001127207.1, NM_014140.3
Exon/intron information NM_014140.3
Associated with diseases Schimke immunoosseous dysplasia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated June 11, 2016
Version SMARCAL1:160611

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11102
Entrez Gene 50485
PubMed articles SMARCAL1
OMIM - Gene 606622
OMIM - Diseases Schimke immunoosseous dysplasia
GeneCards SMARCAL1
GeneTests SMARCAL1

Active transcripts




NCBI ID     

NCBI Protein ID     

00019422 2 transcript variant 2 NM_001127207.1 NP_001120679.1 1
00024139 2 transcript variant 1 NM_014140.3 NP_054859.2 0

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 © 2013-2016. 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.