SCN10A
This page contains an overview of the genetic variation in the SCN10A 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:
SCN10A gene and transcript details
Gene Name
sodium channel, voltage-gated, type X, alpha subunit
Gene Links
Ensembl: ENSG00000185313 -
Locus Reference Genomic:
Genomic Location
Chromosome 3 : 38,738,840 - 38,835,501 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (5868 bases) | Protein (1956 aa) |
|---|---|---|
 |
ENST00000449082 | ENSP00000390600 |
 |
||
 |
NM_006514.2 | |
 |
Q9Y5Y9 |
Summary of SCN10A in Cardiomyopathies
SCN10A variants in ExAC
Details of the protein-altering SCN10A 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 | 919 | 0.01528 |
| Truncating | 62 | 0.00100 |
| Missense | 776 | 0.01324 |
| Inframe | 9 | 0.00007 |
| Splice Site | 72 | 0.00097 |