SCN8A gene homepage

General information
Gene symbol SCN8A
Gene name sodium channel, voltage gated, type VIII, alpha subunit
Chromosome 12
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_021180.2
Transcript reference NM_014191.2
Exon/intron information NM_014191.2 exon/intron table
Associated with diseases EIEE-13, Cognitive impairment with or without cerebellar ataxia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 153
Unique public DNA variants reported 123
Individuals with public variants 24
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 09, 2012
Date last updated June 28, 2019
Version SCN8A:190628

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_014191.2.
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 https://www.LOVD.nl/SCN8A
External URL Orphanet
HGNC 10596
Entrez Gene 6334
PubMed articles SCN8A
OMIM - Gene 600702
OMIM - Diseases EIEE-13 (encephalopathy, epileptic, early infantile, type 13 (EIEE-13))
Cognitive impairment with or without cerebellar ataxia
HGMD SCN8A
GeneCards SCN8A
GeneTests SCN8A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000089 12 sodium channel, voltage gated, type VIII, alpha subunit, transcript variant 1 NM_014191.2 NP_055006.1 153


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