DLST
dihydrolipoamide S-succinyltransferase
Summary
This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28426374 | 14:75,346,740 | C/G | — | — |
| rs750745041 | 14:75,348,647 | C/T | — | likely benign |
| rs201221488 | 14:75,348,650 | C/A | — | likely benign |
| rs374911682 | 14:75,348,651 | G/A | — | uncertain significance |
| rs200502397 | 14:75,348,653 | C/G | — | uncertain significance |
| rs745576936 | 14:75,348,663 | T/C | — | uncertain significance |
| rs774943636 | 14:75,348,667 | G/A | — | uncertain significance |
| rs373129809 | 14:75,348,668 | A/G | — | likely benign |
| rs544892049 | 14:75,348,672 | C/A | — | uncertain significance |
| rs1384565108 | 14:75,348,692 | C/T | — | likely benign |
| rs1229419015 | 14:75,349,301 | G/A | — | uncertain significance |
| rs772084092 | 14:75,349,304 | C/T | — | uncertain significance |
| rs184537877 | 14:75,351,869 | C/G | intron variant | — |
| rs745680013 | 14:75,352,302 | C/G | — | uncertain significance |
| rs61755652 | 14:75,352,336 | G/A | — | likely benign |
| rs201278080 | 14:75,355,781 | G/C | — | conflicting classifications of pathogenicity |
| rs539340428 | 14:75,356,008 | C/T | — | uncertain significance |
| rs747142269 | 14:75,356,070 | A/T | — | likely benign |
| rs780244844 | 14:75,356,591 | T/C | — | uncertain significance |
| rs375575781 | 14:75,356,641 | A/G | — | uncertain significance |
| rs111855284 | 14:75,356,674 | C/T | — | benign |
| rs145434180 | 14:75,357,765 | G/T | — | uncertain significance |
| rs779372073 | 14:75,357,784 | C/A | — | uncertain significance |
| rs769413082 | 14:75,357,814 | C/T | — | uncertain significance |
| rs1331565219 | 14:75,357,853 | C/T | — | uncertain significance |
| rs145198857 | 14:75,357,868 | G/A | — | uncertain significance |
| rs199817745 | 14:75,357,909 | C/G | — | likely benign |
| rs10146501 | 14:75,359,226 | T/C | — | — |
| rs2300598 | 14:75,359,229 | T/C | intron variant | — |
| rs181867568 | 14:75,359,559 | G/A | — | likely benign |
| rs1307487633 | 14:75,359,570 | C/T | — | uncertain significance |
| rs148302005 | 14:75,359,584 | C/T | — | uncertain significance |
| rs766047735 | 14:75,359,606 | C/T | — | uncertain significance |
| rs1331012371 | 14:75,359,624 | C/G | — | uncertain significance |
| rs781463372 | 14:75,359,650 | C/G | — | uncertain significance |
| rs2230237 | 14:75,359,670 | G/A | — | benign |
| rs555372886 | 14:75,359,677 | T/C | — | uncertain significance |
| rs535010355 | 14:75,359,701 | A/G | — | benign |
| rs142872233 | 14:75,360,066 | T/C | — | benign |
| rs199961137 | 14:75,360,102 | G/T | — | uncertain significance |
| rs1402244328 | 14:75,361,039 | C/T | — | uncertain significance |
| rs61741963 | 14:75,361,094 | T/A | — | benign |
| rs367789450 | 14:75,361,108 | A/G | — | uncertain significance |
| rs28630808 | 14:75,365,059 | A/G | — | benign |
| rs2080087 | 14:75,365,062 | A/G | — | benign |
| rs11623527 | 14:75,365,084 | A/G | — | likely benign |
| rs367571427 | 14:75,365,092 | C/T | — | uncertain significance |
| rs763725822 | 14:75,365,164 | C/T | — | uncertain significance |
| rs371526031 | 14:75,365,184 | C/G | — | uncertain significance |
| rs732765 | 14:75,365,729 | A/G | regulatory region variant | — |
| rs144410678 | 14:75,366,607 | T/C | — | benign |
| rs148617142 | 14:75,366,635 | A/G | — | uncertain significance |
| rs200530358 | 14:75,366,985 | C/G | — | conflicting classifications of pathogenicity |
| rs1594882222 | 14:75,366,986 | C/T | — | likely benign |
| rs529335333 | 14:75,367,049 | C/T | — | uncertain significance |
| rs144479996 | 14:75,367,058 | A/G | — | uncertain significance |
| rs1254370852 | 14:75,367,072 | G/C | — | uncertain significance |
| rs373779680 | 14:75,367,089 | A/G | — | likely benign |
| rs201053671 | 14:75,367,790 | A/G | — | uncertain significance |
| rs20578 | 14:75,367,807 | C/T | — | benign |
| rs1270341616 | 14:75,367,830 | G/A | — | uncertain significance |
| rs2853779 | 14:75,368,508 | G/C | — | — |
| rs767072522 | 14:75,368,909 | G/A | — | uncertain significance |
| rs1479568972 | 14:75,368,978 | T/A | — | uncertain significance |
| rs372583375 | 14:75,368,980 | C/T | — | uncertain significance |
| rs201182143 | 14:75,369,014 | T/C | — | uncertain significance |
| rs140969101 | 14:75,369,016 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.