ACAA1
acetyl-CoA acyltransferase 1
Summary
This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771165029 | 3:38,164,567 | C/T | — | uncertain significance |
| rs148896847 | 3:38,164,585 | C/T | — | uncertain significance |
| rs2229528 | 3:38,167,095 | A/G | missense variant | — |
| rs749249005 | 3:38,167,101 | C/T | — | uncertain significance |
| rs76106932 | 3:38,167,151 | G/A | — | likely benign |
| rs142074753 | 3:38,167,168 | G/C | — | uncertain significance |
| rs2471558344 | 3:38,167,170 | G/A | — | uncertain significance |
| rs756886040 | 3:38,167,784 | C/T | — | uncertain significance |
| rs370502860 | 3:38,168,010 | T/C | — | uncertain significance |
| rs1430078665 | 3:38,168,200 | A/G | — | likely benign |
| rs761378746 | 3:38,169,307 | T/C | — | uncertain significance |
| rs156265 | 3:38,170,810 | C/G | — | benign |
| rs1036666382 | 3:38,170,822 | C/G | — | uncertain significance |
| rs751653410 | 3:38,170,827 | G/A | — | uncertain significance |
| rs146730813 | 3:38,170,829 | G/A | — | uncertain significance |
| rs145740203 | 3:38,170,838 | T/C | — | uncertain significance |
| rs139044259 | 3:38,170,864 | G/A | — | benign |
| rs762374628 | 3:38,170,869 | T/A | — | uncertain significance |
| rs953132629 | 3:38,173,429 | C/A | — | uncertain significance |
| rs145935424 | 3:38,173,456 | G/C | — | uncertain significance |
| rs772301831 | 3:38,173,470 | G/A | — | uncertain significance |
| rs759328834 | 3:38,175,477 | C/T | — | uncertain significance |
| rs151286491 | 3:38,178,093 | G/A | — | likely benign |
| rs893442512 | 3:38,178,122 | C/T | — | uncertain significance |
| rs147670996 | 3:38,178,123 | G/C | — | likely benign |
| rs756284410 | 3:38,178,134 | C/G | — | uncertain significance |
| rs2471584670 | 3:38,178,361 | A/C | — | uncertain significance |
| rs922876523 | 3:38,178,391 | T/C | — | uncertain significance |
| rs1004255722 | 3:38,178,393 | C/A | — | uncertain significance |
| rs1238674910 | 3:38,178,432 | T/C | — | likely benign |
| rs769540697 | 3:38,178,499 | G/A | — | uncertain significance |
| rs2471585512 | 3:38,178,501 | C/T | — | uncertain significance |
| rs759096151 | 3:38,178,521 | C/T | — | likely benign |
| rs4988453 | 3:38,179,254 | C/T | — | — |
| rs137853065 | 3:38,180,469 | T/C | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.