ACOT7
acyl-CoA thioesterase 7
Summary
This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767579371 | 1:6,324,671 | C/T | — | uncertain significance |
| rs139667005 | 1:6,324,673 | G/A | — | uncertain significance |
| rs765656734 | 1:6,324,682 | T/C | — | uncertain significance |
| rs61739537 | 1:6,324,747 | G/A | — | benign |
| rs114460868 | 1:6,341,154 | G/A | — | benign |
| rs1553155214 | 1:6,341,239 | A/G | — | uncertain significance |
| rs1639349819 | 1:6,341,287 | C/T | — | uncertain significance |
| rs376071703 | 1:6,341,304 | T/C | — | uncertain significance |
| rs1431580393 | 1:6,341,310 | G/A | — | uncertain significance |
| rs10489535 | 1:6,343,825 | G/A | intron variant | — |
| rs1804843 | 1:6,354,955 | G/A | — | benign |
| rs569408128 | 1:6,378,560 | A/C | — | uncertain significance |
| rs756878806 | 1:6,387,389 | C/T | — | uncertain significance |
| rs1356797708 | 1:6,387,398 | A/C | — | uncertain significance |
| rs377545776 | 1:6,387,450 | C/G | — | uncertain significance |
| rs746248748 | 1:6,387,467 | G/C | — | uncertain significance |
| rs150396451 | 1:6,395,189 | G/A | intron variant | — |
| rs553874430 | 1:6,399,527 | C/T | — | benign |
| rs147559738 | 1:6,399,605 | G/A | — | likely benign |
| rs868561629 | 1:6,399,627 | G/A | — | uncertain significance |
| rs200819032 | 1:6,409,811 | C/T | — | uncertain significance |
| rs115700963 | 1:6,418,882 | G/A | — | benign |
| rs146144846 | 1:6,420,661 | C/A | intron variant | — |
| rs142418698 | 1:6,420,713 | C/T | — | likely benign |
| rs188591855 | 1:6,424,885 | G/C | — | — |
| rs115915823 | 1:6,445,562 | A/G | — | likely benign |
| rs1642422100 | 1:6,445,594 | T/C | — | uncertain significance |
| rs373815001 | 1:6,445,618 | C/T | — | uncertain significance |
| rs149893425 | 1:6,445,633 | G/A | — | uncertain significance |
| rs2522587427 | 1:6,445,713 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.