IL18
This page contains an overview of the genetic variation in the IL18 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:
IL18 gene and transcript details
Gene Name
interleukin 18 (interferon-gamma-inducing factor)
Gene Links
Ensembl: ENSG00000150782 -
Locus Reference Genomic:
Genomic Location
Chromosome 11 : 112,014,319 - 112,025,776 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (579 bases) | Protein (193 aa) |
|---|---|---|
 |
ENST00000280357 | ENSP00000280357 |
 |
||
 |
NM_001562.2 | |
 |
Q14116 |
Summary of IL18 in Cardiomyopathies
IL18 variants in ExAC
Details of the protein-altering IL18 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 | 44 | 0.00059 |
| Truncating | 3 | 0.00004 |
| Missense | 30 | 0.00039 |
| Inframe | 0 | 0.00000 |
| Splice Site | 11 | 0.00017 |