ABCC8
This page contains an overview of the genetic variation in the ABCC8 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:
ABCC8 gene and transcript details
Gene Name
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Gene Links
Ensembl: ENSG00000006071 -
Locus Reference Genomic:
Genomic Location
Chromosome 11 : 17,414,538 - 17,498,323 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (4743 bases) | Protein (1581 aa) |
|---|---|---|
 |
ENST00000389817 | ENSP00000374467 |
 |
||
 |
NM_000352.3 | |
 |
Q09428 |
Summary of ABCC8 in Cardiomyopathies
ABCC8 variants in ExAC
Details of the protein-altering ABCC8 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 | 618 | 0.00943 |
| Truncating | 40 | 0.00050 |
| Missense | 476 | 0.00713 |
| Inframe | 4 | 0.00004 |
| Splice Site | 98 | 0.00177 |