The SETX gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol SETX
Gene name senataxin
Chromosome 9
Chromosomal band q34
Imprinted Not imprinted
Genomic reference LRG_268
Transcript reference NM_015046.5
Exon/intron information NM_015046.5 exon/intron table
Associated with diseases ALS-4, AOA, SCAR-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Corey Braastad and Global Variome, with Curator vacancy
Total number of public variants reported 493
Unique public DNA variants reported 286
Individuals with public variants 387
Hidden variants 29
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the: Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created April 29, 2010
Date last updated February 08, 2021
Version SETX:210208

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_015046.5.
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
HGNC 445
Entrez Gene 23064
PubMed articles SETX
OMIM - Gene 608465
OMIM - Diseases ALS-4 (sclerosis, lateral, amyotrophic, type type 4 (ALS-4))
SCAR-1 (AOA-2)
GeneCards SETX
GeneTests SETX
Orphanet SETX

Active transcripts




NCBI ID     

NCBI Protein ID     

00018758 9 senataxin NM_015046.5 NP_055861.3 493

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 © 2010-2021. 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.