TNRC18
This page contains an overview of the genetic variation in the TNRC18 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:
TNRC18 gene and transcript details
Gene Name
trinucleotide repeat containing 18
Gene Links
Ensembl: ENSG00000182095 -
Locus Reference Genomic:
Genomic Location
Chromosome 7 : 5,347,737 - 5,460,877 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (8904 bases) | Protein (2968 aa) |
|---|---|---|
 |
ENST00000430969 | ENSP00000395538 |
 |
||
 |
NM_001080495.2 | |
 |
O15417 |
Summary of TNRC18 in Cardiomyopathies
TNRC18 variants in ExAC
Details of the protein-altering TNRC18 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 | 987 | 0.01683 |
| Truncating | 6 | 0.00008 |
| Missense | 874 | 0.01531 |
| Inframe | 34 | 0.00023 |
| Splice Site | 73 | 0.00122 |