SCN4A gene homepage

General information
Gene symbol SCN4A
Gene name sodium channel, voltage-gated, type IV, alpha subunit
Chromosome 17
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_011699.1
Transcript reference NM_000334.4
Exon/intron information NM_000334.4 exon/intron table
Associated with diseases CMS-16, HOKPP, HOKPP-2, HYPP, PMC, myotonia, potassium-aggravated
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Ieke Ginjaar and Vincent Janmaat
Total number of public variants reported 910
Unique public DNA variants reported 213
Individuals with public variants 364
Hidden variants 2
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.
Date created September 06, 2007
Date last updated October 25, 2019
Version SCN4A:191025

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_000334.4.
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/SCN4A
External URL Orphanet
HGNC 10591
Entrez Gene 6329
PubMed articles SCN4A
OMIM - Gene 603967
OMIM - Diseases CMS-16 (myasthenic syndrome, congenital, type 16, acetazolamide-responsive (CMS-16))
HOKPP-2 (paralysis, hypokalemic, periodic, type 2 (HOKPP-2))
HYPP (paralysis, periodic, hyperkalemic (HYPP))
PMC (paramyotonia congenita of von Eulenburg (PMC))
myotonia, potassium-aggravated
HGMD SCN4A
GeneCards SCN4A
GeneTests SCN4A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018521 17 sodium channel, voltage-gated, type IV, alpha subunit NM_000334.4 NP_000325.4 910


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