KCNA5
This page contains an overview of the genetic variation in the KCNA5 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:
KCNA5 gene and transcript details
Gene Name
potassium voltage-gated channel, shaker-related subfamily, member 5
Gene Links
Ensembl: ENSG00000130037 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 5,153,314 - 5,155,155 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1839 bases) | Protein (613 aa) |
|---|---|---|
 |
ENST00000252321 | ENSP00000252321 |
 |
||
 |
NM_002234.2 | |
 |
P22460 |
Summary of KCNA5 in Cardiomyopathies
KCNA5 variants in ExAC
Details of the protein-altering KCNA5 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 | 240 | 0.00347 |
| Truncating | 10 | 0.00012 |
| Missense | 228 | 0.00334 |
| Inframe | 2 | 0.00002 |
| Splice Site | 0 | 0.00000 |