SCN5A
This page contains an overview of the genetic variation in the SCN5A gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
SCN5A gene and transcript details
Gene Name
sodium channel, voltage-gated, type V, alpha subunit
Gene Links
Ensembl: ENSG00000183873 -
Locus Reference Genomic: LRG_289
Genomic Location
Chromosome 3 : 38,591,812 - 38,674,798 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (6048 bases) | Protein (2016 aa) |
|---|---|---|
 |
ENST00000333535 | ENSP00000328968 |
 |
LRG_289t1 | LRG_289p1 |
 |
NM_198056.2 | |
 |
Q14524 |
Summary of SCN5A in Cardiomyopathies
DCM - Dilated Cardiomyopathy - explore in detail| VarType | DCM Freq | ExAC Freq | Case Excess |
|---|---|---|---|
| All | 0.02303 | 0.02380 | -0.08% |
| Truncating | 0.00987 | 0.00064 | 0.92% |
| Non-Truncating | 0.01316 | 0.02318 | -1.00% |
SCN5A variants in ExAC
Details of the protein-altering SCN5A variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 736 | 0.01304 |
| Truncating | 17 | 0.00032 |
| Missense | 650 | 0.01150 |
| Inframe | 8 | 0.00009 |
| Splice Site | 61 | 0.00116 |