ACADL
acyl-CoA dehydrogenase long chain
Summary
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886055550 | 2:211,053,064 | C/T | — | uncertain significance |
| rs915455110 | 2:211,057,519 | T/C | — | likely benign |
| rs140931117 | 2:211,057,542 | C/G | — | uncertain significance |
| rs73984347 | 2:211,059,930 | C/T | — | likely benign |
| rs140400345 | 2:211,059,943 | C/T | — | likely benign |
| rs147975645 | 2:211,059,944 | G/A | — | uncertain significance |
| rs1391387036 | 2:211,059,948 | T/C | — | uncertain significance |
| rs955298905 | 2:211,060,013 | C/T | — | uncertain significance |
| rs2286963 | 2:211,060,050 | T/G | missense variant | benign |
| rs199818269 | 2:211,060,055 | T/C | — | uncertain significance |
| rs1247727498 | 2:211,068,083 | G/A | — | uncertain significance |
| rs148069105 | 2:211,068,100 | A/G | — | likely benign |
| rs377085604 | 2:211,068,107 | C/A | — | conflicting classifications of pathogenicity |
| rs1465592229 | 2:211,068,117 | C/T | — | uncertain significance |
| rs750962101 | 2:211,068,129 | C/G | — | uncertain significance |
| rs754063899 | 2:211,068,168 | C/T | — | uncertain significance |
| rs2469291517 | 2:211,068,170 | T/C | — | uncertain significance |
| rs186650618 | 2:211,069,295 | C/T | — | likely benign |
| rs1688854112 | 2:211,069,367 | C/A | — | uncertain significance |
| rs200297060 | 2:211,069,376 | G/A | — | conflicting classifications of pathogenicity |
| rs146511220 | 2:211,070,402 | C/G | — | conflicting classifications of pathogenicity |
| rs144111589 | 2:211,070,441 | T/C | — | uncertain significance |
| rs149076720 | 2:211,070,465 | T/C | — | uncertain significance |
| rs77160779 | 2:211,070,470 | G/A | — | benign |
| rs76781609 | 2:211,070,473 | C/T | — | likely benign |
| rs150844488 | 2:211,070,503 | C/A | — | benign |
| rs3764913 | 2:211,074,909 | T/C | intron variant | benign |
| rs1227627828 | 2:211,074,978 | T/G | — | uncertain significance |
| rs768577146 | 2:211,081,099 | T/C | — | uncertain significance |
| rs774160815 | 2:211,081,110 | C/T | — | uncertain significance |
| rs146176190 | 2:211,081,144 | T/C | — | uncertain significance |
| rs571156599 | 2:211,081,233 | G/A | — | uncertain significance |
| rs1247611733 | 2:211,082,705 | T/A | — | uncertain significance |
| rs1575681359 | 2:211,082,803 | C/T | — | uncertain significance |
| rs375633890 | 2:211,082,830 | C/T | — | likely benign |
| rs1286709391 | 2:211,085,417 | T/C | — | uncertain significance |
| rs555835264 | 2:211,085,423 | G/A | — | uncertain significance |
| rs748988075 | 2:211,085,424 | G/C | — | uncertain significance |
| rs145668318 | 2:211,085,464 | A/G | — | uncertain significance |
| rs201963746 | 2:211,085,466 | A/G | — | likely benign |
| rs776966791 | 2:211,085,475 | T/A | — | likely benign |
| rs61731470 | 2:211,085,491 | A/G | — | benign |
| rs767313935 | 2:211,085,510 | C/T | — | uncertain significance |
| rs755556107 | 2:211,085,514 | G/A | — | likely benign |
| rs575405475 | 2:211,089,951 | G/A | — | likely benign |
| rs763274790 | 2:211,089,981 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.