LOVD SCN1A homepage

General information
Gene name sodium channel, voltage-gated, type I, alpha subunit
Gene symbol SCN1A
Chromosome Location 2q24.3
Database location grenada.lumc.nl
Curator Paola Carrera PhD and Stefania Battistini MD PhD
PubMed references View all (unique) PubMed references in the SCN1A database
Date of creation June 16, 2008
Last update July 20, 2012
Version SCN1A120720
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Genomic refseq ID NC_000002.11
Transcript refseq ID NM_001165963.1
Total number of unique DNA variants reported 6
Total number of individuals with variant(s) 36
Total number of variants reported 36
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SCN1A database, sorted by type of variant (with graphical displays and statistics)
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 SCN1A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SCN1A database
Variants with no known pathogenicity Listing of all SCN1A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the SCN1A database in tab-delimited text format.

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

Links to other resources
HGNC 10585
Entrez Gene 6323
OMIM - Gene 182389
OMIM - Disease FHM3
HGMD SCN1A
GeneTests SCN1A
External link #1 Orphanet
External link #2 http://www.lrg-sequence.org/page.php?page=search_results

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 © 2014. 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.