SCN5A gene homepage

General information
Gene symbol SCN5A
Gene name sodium channel, voltage-gated, type V, alpha subunit
Chromosome 3
Chromosomal band p21
Imprinted Not imprinted
Genomic reference LRG_289
Transcript reference NM_198056.2
Exon/intron information NM_198056.2 exon/intron table
Associated with diseases ATFB-10, BRGDA1, CMD-1E, LQT-3, PFHB-1A, SIDS, SSS-1, VF-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1537
Unique public DNA variants reported 930
Individuals with public variants 1479
Hidden variants 48
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated July 06, 2020
Version SCN5A:200706

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_198056.2.
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 http://www.LOVD.nl/SCN5A
External URL Orphanet
HGNC 10593
Entrez Gene 6331
PubMed articles SCN5A
OMIM - Gene 600163
OMIM - Diseases ATFB-10 (fibrillation, atrial, familial, type 10 (ATFB10))
BRGDA1 (syndrome, Brugada, type 1 (BRGDA-1))
CMD-1E (cardiomyopathy, dilated, type 1E (CMD-1E))
LQT-3 (QT syndrome, long, type 3 (LQT-3))
PFHB-1A (heart block, progressive, familial, type 1A (PFHB1A, heart block, nonprogressive))
SIDS (death, sudden, syndrome, infant (SIDS))
SSS-1 (sinus, sick, syndrome, type 1, autosomal recessive (SSS-1))
VF-1 (fibrillation, ventricular, paroxysmal, familial, type 1 (VF-1))
HGMD SCN5A
GeneCards SCN5A
GeneTests SCN5A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018523 3 transcript variant 1 NM_198056.2 NP_932173.1 1537


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