ILK
This page contains an overview of the genetic variation in the ILK 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:
ILK gene and transcript details
Gene Name
integrin-linked kinase
Gene Links
Ensembl: ENSG00000166333 -
Locus Reference Genomic: LRG_444
Genomic Location
Chromosome 11 : 6,625,502 - 6,631,842 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1356 bases) | Protein (452 aa) |
|---|---|---|
 |
ENST00000299421 | ENSP00000299421 |
 |
LRG_444t1 | LRG_444p1 |
 |
NM_004517.2 | |
 |
Q13418 |
Summary of ILK in Cardiomyopathies
ILK variants in ExAC
Details of the protein-altering ILK 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 | 184 | 0.00290 |
| Truncating | 16 | 0.00026 |
| Missense | 150 | 0.00234 |
| Inframe | 0 | 0.00000 |
| Splice Site | 18 | 0.00031 |