SACS gene homepage

General information
Gene symbol SACS
Gene name spastic ataxia of Charlevoix-Saguenay (sacsin)
Chromosome 13
Chromosomal band q11
Imprinted Unknown
Genomic reference NG_012342.1
Transcript reference NM_014363.5
Exon/intron information NM_014363.5 exon/intron table
Associated with diseases ataxia, SACS, spastic ataxia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Bernard Brais and Marie-Josée Dicaire
Total number of public variants reported 538
Unique public DNA variants reported 328
Individuals with public variants 241
Hidden variants 17
Download all this gene's data Download all data
Notes The SACSIN database was initiated at McGill University by Isabelle Thiffault, Jean-Pierre Bouchard, Jean Mathieu and Bernard Brais. In February 2013 the data were moved to a LOVD-powered database
Establishment of this gene variant database (LSDB) was supported by the
Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated August 26, 2019
Version SACS:190826

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_014363.5.
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
original SACSIN homepage
HGNC 10519
Entrez Gene 26278
PubMed articles SACS
OMIM - Gene 604490
OMIM - Diseases SACS (ataxia, spastic, Charlevoix-Saguenay type (SACS))
GeneCards SACS
GeneTests SACS

Active transcripts




NCBI ID     

NCBI Protein ID     

00024113 13 transcript variant 1 NM_014363.5 NP_055178.3 538

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.