OXCT1
3-oxoacid CoA-transferase 1
Summary
This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
Known Variants195 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568827750 | 5:41,730,215 | T/C | — | uncertain significance |
| rs991465345 | 5:41,730,358 | C/A | — | uncertain significance |
| rs10227 | 5:41,730,387 | C/A | — | benign |
| rs77675837 | 5:41,730,397 | C/G | — | benign |
| rs569333641 | 5:41,730,486 | T/C | — | likely benign |
| rs958750765 | 5:41,730,565 | T/A | — | uncertain significance |
| rs191846235 | 5:41,730,602 | G/A | — | uncertain significance |
| rs557656999 | 5:41,730,759 | T/C | — | uncertain significance |
| rs561517616 | 5:41,730,790 | C/T | — | uncertain significance |
| rs1009268135 | 5:41,730,808 | C/T | — | uncertain significance |
| rs1042451031 | 5:41,730,820 | A/G | — | uncertain significance |
| rs760360084 | 5:41,730,866 | A/G | — | uncertain significance |
| rs17847289 | 5:41,730,875 | A/G | — | uncertain significance |
| rs184393125 | 5:41,730,896 | T/C | — | benign |
| rs1444714934 | 5:41,731,248 | C/A | — | uncertain significance |
| rs886060633 | 5:41,731,264 | G/A | — | uncertain significance |
| rs774451948 | 5:41,731,469 | G/T | — | uncertain significance |
| rs185659338 | 5:41,731,640 | C/T | — | uncertain significance |
| rs1051109919 | 5:41,731,643 | T/C | — | uncertain significance |
| rs555729750 | 5:41,731,674 | C/T | — | likely benign |
| rs886060634 | 5:41,731,693 | G/T | — | uncertain significance |
| rs886060635 | 5:41,731,737 | T/C | — | uncertain significance |
| rs190436225 | 5:41,731,805 | C/T | — | uncertain significance |
| rs372435451 | 5:41,731,830 | T/C | — | likely benign |
| rs890448205 | 5:41,731,834 | A/G | — | likely benign |
| rs180683984 | 5:41,731,839 | C/T | — | uncertain significance |
| rs1742641646 | 5:41,731,851 | T/C | — | uncertain significance |
| rs2478215386 | 5:41,731,853 | G/A | — | uncertain significance |
| rs1008818247 | 5:41,731,876 | G/A | — | likely benign |
| rs1210508065 | 5:41,731,892 | A/C | — | likely benign |
| rs76871244 | 5:41,739,229 | C/G | — | benign |
| rs375777925 | 5:41,739,474 | G/C | — | likely benign |
| rs745896456 | 5:41,739,493 | G/A | — | uncertain significance |
| rs560172270 | 5:41,739,504 | C/T | — | likely benign |
| rs368510146 | 5:41,739,507 | A/G | — | likely benign |
| rs1385735182 | 5:41,739,518 | G/C | — | uncertain significance |
| rs778813276 | 5:41,739,521 | C/T | — | uncertain significance |
| rs144283422 | 5:41,739,522 | G/A | — | conflicting classifications of pathogenicity |
| rs752339317 | 5:41,739,534 | C/T | — | likely benign |
| rs758232097 | 5:41,739,538 | C/T | — | likely benign |
| rs2478254709 | 5:41,739,559 | G/A | — | uncertain significance |
| rs2478254935 | 5:41,739,589 | A/G | — | uncertain significance |
| rs16871940 | 5:41,739,626 | A/G | — | benign |
| rs33967331 | 5:41,739,684 | A/G | — | benign |
| rs2478312896 | 5:41,749,628 | C/G | — | pathogenic |
| rs1743662670 | 5:41,749,635 | A/C | — | uncertain significance |
| rs2112046817 | 5:41,749,645 | C/A | — | uncertain significance |
| rs1327401976 | 5:41,749,646 | G/A | — | likely pathogenic |
| rs1743663333 | 5:41,749,656 | T/C | — | likely benign |
| rs1367149325 | 5:41,749,674 | T/C | — | likely benign |
| rs369643387 | 5:41,749,678 | G/A | — | pathogenic |
| rs121909300 | 5:41,749,681 | C/A | missense variant | pathogenic |
| rs1185265570 | 5:41,749,709 | C/T | — | uncertain significance |
| rs1743668356 | 5:41,749,711 | T/C | — | likely pathogenic |
| rs747453069 | 5:41,749,721 | A/G | — | conflicting classifications of pathogenicity |
| rs58511292 | 5:41,762,002 | T/A | — | benign |
| rs2478378069 | 5:41,762,230 | T/C | — | uncertain significance |
| rs758849678 | 5:41,762,252 | C/T | — | likely benign |
| rs778023760 | 5:41,762,253 | G/A | — | uncertain significance |
| rs1179365387 | 5:41,762,255 | A/G | — | likely benign |
| rs2478378469 | 5:41,762,294 | C/T | — | uncertain significance |
| rs7712274 | 5:41,773,730 | T/A | — | — |
| rs7733095 | 5:41,777,366 | T/A | intron variant | — |
| rs34071445 | 5:41,793,832 | C/T | — | benign |
| rs1561081472 | 5:41,794,100 | C/T | — | likely pathogenic |
| rs746345071 | 5:41,794,151 | G/A | — | uncertain significance |
| rs1746057544 | 5:41,794,160 | A/G | — | uncertain significance |
| rs544345952 | 5:41,794,170 | C/T | — | likely benign |
| rs142593804 | 5:41,794,171 | G/A | — | likely benign |
| rs772982372 | 5:41,794,173 | C/T | — | uncertain significance |
| rs145673650 | 5:41,794,319 | C/A | — | likely benign |
| rs770657301 | 5:41,794,805 | G/A | — | likely benign |
| rs2112231295 | 5:41,794,836 | G/A | — | uncertain significance |
| rs1179840640 | 5:41,794,857 | C/A | — | uncertain significance |
| rs1746095508 | 5:41,794,865 | C/G | — | likely benign |
| rs78253456 | 5:41,801,107 | G/C | — | benign |
| rs202242762 | 5:41,801,122 | A/G | — | likely pathogenic |
| rs1332967853 | 5:41,801,131 | G/A | — | likely benign |
| rs1746399038 | 5:41,801,134 | G/A | — | likely benign |
| rs140869022 | 5:41,801,143 | A/G | — | conflicting classifications of pathogenicity |
| rs4957424 | 5:41,802,959 | C/G | — | benign |
| rs1265872256 | 5:41,803,176 | C/A | — | uncertain significance |
| rs945615302 | 5:41,803,248 | T/C | — | uncertain significance |
| rs121909301 | 5:41,803,250 | C/T | missense variant | pathogenic |
| rs886060636 | 5:41,803,280 | T/C | — | conflicting classifications of pathogenicity |
| rs34569700 | 5:41,803,415 | C/T | — | benign |
| rs16871955 | 5:41,805,575 | G/C | — | benign |
| rs1422128590 | 5:41,805,651 | C/T | — | likely benign |
| rs1579774376 | 5:41,805,665 | A/C | — | uncertain significance |
| rs2478600378 | 5:41,805,669 | C/T | — | uncertain significance |
| rs1377380023 | 5:41,805,723 | C/T | — | uncertain significance |
| rs371211907 | 5:41,805,751 | T/C | — | likely benign |
| rs140541067 | 5:41,805,761 | C/G | — | uncertain significance |
| rs766119402 | 5:41,805,770 | C/T | — | uncertain significance |
| rs750604881 | 5:41,805,771 | G/A | — | uncertain significance |
| rs121909299 | 5:41,805,776 | G/C | stop gained | pathogenic |
| rs200306864 | 5:41,805,782 | C/T | — | uncertain significance |
| rs2478601688 | 5:41,805,787 | T/C | — | likely benign |
| rs34663371 | 5:41,806,061 | C/A | — | benign |
| rs751421452 | 5:41,807,448 | A/G | — | likely benign |
Showing 100 of 195 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.