PET100
PET100 cytochrome c oxidase chaperone
Summary
Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4134810 | 19:7,694,349 | C/T | — | likely benign |
| rs4134809 | 19:7,694,393 | G/A | — | benign |
| rs4134808 | 19:7,694,538 | A/G | — | benign |
| rs73921477 | 19:7,694,585 | G/T | — | benign |
| rs794085 | 19:7,694,602 | C/G | — | benign |
| rs3760675 | 19:7,694,662 | T/C | — | benign |
| rs1057522682 | 19:7,694,701 | G/C | — | likely benign |
| rs1001603852 | 19:7,694,717 | G/A | — | likely benign |
| rs977392512 | 19:7,694,720 | A/T | — | pathogenic |
| rs2031233364 | 19:7,694,737 | G/A | — | likely benign |
| rs2512661945 | 19:7,694,756 | C/T | — | likely benign |
| rs1384040826 | 19:7,694,757 | A/G | — | likely benign |
| rs2031234589 | 19:7,694,760 | G/A | — | likely benign |
| rs989708248 | 19:7,694,761 | G/A | — | likely benign |
| rs115357079 | 19:7,695,266 | G/C | — | benign |
| rs3760676 | 19:7,695,336 | A/G | — | benign |
| rs4134805 | 19:7,695,441 | C/T | — | likely benign |
| rs2512663353 | 19:7,695,445 | C/G | — | likely benign |
| rs2031257693 | 19:7,695,457 | A/G | — | likely pathogenic |
| rs1311193105 | 19:7,695,470 | C/A | — | pathogenic |
| rs2031258865 | 19:7,695,497 | G/A | — | pathogenic |
| rs184325854 | 19:7,695,505 | A/G | — | likely benign |
| rs4134804 | 19:7,695,513 | G/C | — | uncertain significance |
| rs1172004393 | 19:7,695,546 | G/A | — | likely pathogenic |
| rs963397184 | 19:7,695,549 | G/A | — | uncertain significance |
| rs753554915 | 19:7,695,552 | A/G | — | conflicting classifications of pathogenicity |
| rs2512663616 | 19:7,695,559 | G/A | — | likely benign |
| rs2146193088 | 19:7,695,561 | G/C | — | likely benign |
| rs2512663629 | 19:7,695,563 | G/A | — | likely benign |
| rs11260004 | 19:7,695,620 | T/C | — | benign |
| rs117622602 | 19:7,695,636 | T/A | — | likely benign |
| rs148296387 | 19:7,695,681 | G/A | — | likely benign |
| rs1051588624 | 19:7,695,700 | T/C | — | likely benign |
| rs1459437890 | 19:7,695,706 | C/G | — | conflicting classifications of pathogenicity |
| rs2512664094 | 19:7,695,708 | G/A | — | likely pathogenic |
| rs2031266454 | 19:7,695,733 | G/T | — | uncertain significance |
| rs756326147 | 19:7,695,735 | A/T | — | uncertain significance |
| rs2031266953 | 19:7,695,743 | T/C | — | likely benign |
| rs2512664180 | 19:7,695,747 | C/T | — | likely benign |
| rs115635730 | 19:7,695,758 | A/G | — | likely benign |
| rs11881820 | 19:7,695,841 | A/G | — | benign |
| rs3760677 | 19:7,695,977 | C/G | — | benign |
| rs11882197 | 19:7,696,138 | G/A | — | benign |
| rs113124654 | 19:7,696,198 | G/A | — | likely benign |
| rs73921479 | 19:7,696,260 | G/A | — | likely benign |
| rs547616467 | 19:7,696,341 | C/T | — | likely benign |
| rs1392809003 | 19:7,696,342 | C/T | — | likely benign |
| rs1411171919 | 19:7,696,343 | G/T | — | likely benign |
| rs1057522294 | 19:7,696,344 | C/T | — | likely benign |
| rs2512665814 | 19:7,696,349 | C/T | — | likely benign |
| rs2512665820 | 19:7,696,350 | C/T | — | likely benign |
| rs1355665945 | 19:7,696,352 | C/T | — | likely benign |
| rs2512665850 | 19:7,696,355 | C/G | — | likely benign |
| rs2512665865 | 19:7,696,359 | C/T | — | uncertain significance |
| rs1303342593 | 19:7,696,361 | T/C | — | likely benign |
| rs1003505006 | 19:7,696,380 | A/C | — | uncertain significance |
| rs756201257 | 19:7,696,392 | C/T | — | uncertain significance |
| rs764288722 | 19:7,696,393 | G/A | — | uncertain significance |
| rs754071187 | 19:7,696,394 | G/A | — | likely benign |
| rs757388275 | 19:7,696,398 | C/T | — | uncertain significance |
| rs779243533 | 19:7,696,399 | G/A | — | conflicting classifications of pathogenicity |
| rs968644021 | 19:7,696,401 | C/T | — | uncertain significance |
| rs977219926 | 19:7,696,404 | G/T | — | uncertain significance |
| rs746204531 | 19:7,696,405 | A/T | — | uncertain significance |
| rs1222164057 | 19:7,696,406 | G/A | — | likely benign |
| rs1186649660 | 19:7,696,413 | C/T | — | uncertain significance |
| rs570620177 | 19:7,696,417 | T/C | — | conflicting classifications of pathogenicity |
| rs1233049647 | 19:7,696,418 | T/C | — | likely benign |
| rs117661715 | 19:7,696,419 | C/T | — | benign |
| rs556380451 | 19:7,696,420 | G/A | — | conflicting classifications of pathogenicity |
| rs375968935 | 19:7,696,421 | C/T | — | likely benign |
| rs768109986 | 19:7,696,424 | C/T | — | likely benign |
| rs2031302675 | 19:7,696,427 | C/T | — | likely benign |
| rs2512666098 | 19:7,696,436 | C/T | — | likely benign |
| rs1270911557 | 19:7,696,438 | C/G | — | likely benign |
| rs1361360018 | 19:7,696,441 | G/A | — | likely benign |
| rs114600858 | 19:7,696,496 | G/T | — | likely benign |
| rs112367781 | 19:7,696,678 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.