LOVD SACS homepage

General information
Gene name Spastic ataxia of Charlevoix-Saguenay (sacsin)
Gene symbol SACS
Chromosome Location 13q11
Database location grenada.lumc.nl
Curator Bernard Brais and Marie-Josée Dicaire
PubMed references View all (unique) PubMed references in the SACS database
Date of creation April 29, 2010
Last update May 13, 2015
Version SACS150513
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_012342.1
Transcript refseq ID NM_014363.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 182
Total number of individuals with variant(s) 211
Total number of variants reported 387
Subscribe to updates of this gene
NOTE 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 this LOVD installation.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SACS database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SACS database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SACS database
Variants with no known pathogenicity Listing of all SACS variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/SACS
HGNC 10519
Entrez Gene 26278
OMIM - Gene 604490
OMIM - Disease spastic ataxia, Charlevoix-Saguenay type (SACS)
UniProtKB (SwissProt/TrEMBL) Q9NZJ4
GeneCards SACS
GeneTests SACS
External link #1 Orphanet
External link #2 original SACSIN homepage

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 © 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.