The SCN1A gene homepage

General information
Gene symbol SCN1A
Gene name sodium channel, voltage-gated, type I, alpha subunit
Chromosome 2
Chromosomal band q24.3
Imprinted Unknown
Genomic reference LRG_8
Transcript reference NM_001165963.1, NM_006920.4
Exon/intron information NM_001165963.1 exon/intron table
Associated with diseases DEE6B, DRVT, FHM3, GEFSP2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 692
Unique public DNA variants reported 513
Individuals with public variants 378
Hidden variants 50
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012.
Date created June 16, 2008
Date last updated January 11, 2023
Version SCN1A:230111

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_001165963.1.
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
HGNC 10585
Entrez Gene 6323
PubMed articles SCN1A
OMIM - Gene 182389
OMIM - Diseases DEE6B (encephalopathy, developmental and epileptic, type 6B)
DRVT (Dravet syndrome)
FHM3 (migraine, hemiplegic, familial, type 3)
GeneCards SCN1A
GeneTests SCN1A
Orphanet SCN1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00023858 2 transcript variant 1 NM_001165963.1 NP_001159435.1 653
00018515 2 transcript variant 2 NM_006920.4 NP_008851.3 476

Copyright & disclaimer
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