SCN1B
This page contains an overview of the genetic variation in the SCN1B 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:
SCN1B gene and transcript details
Gene Name
sodium channel, voltage-gated, type I, beta
Gene Links
Ensembl: ENSG00000105711 -
Locus Reference Genomic: LRG_420
Genomic Location
Chromosome 19 : 35,521,725 - 35,530,605 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (654 bases) | Protein (218 aa) |
|---|---|---|
 |
ENST00000262631 | ENSP00000262631 |
 |
LRG_420t1 | LRG_420p1 |
 |
NM_001037.4 | |
 |
Q07699 |
Summary of SCN1B in Cardiomyopathies
SCN1B variants in ExAC
Details of the protein-altering SCN1B 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 | 86 | 0.00130 |
| Truncating | 3 | 0.00002 |
| Missense | 67 | 0.00100 |
| Inframe | 1 | 0.00001 |
| Splice Site | 15 | 0.00027 |