COQ5
coenzyme Q5, methyltransferase
Summary
Enables 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. Part of ubiquinone biosynthesis complex. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs915670363 | 12:120,941,637 | C/T | — | uncertain significance |
| rs143506842 | 12:120,941,785 | C/T | — | benign |
| rs753415413 | 12:120,941,813 | T/A | — | uncertain significance |
| rs1351013751 | 12:120,941,890 | C/T | — | likely benign |
| rs140687799 | 12:120,942,712 | A/T | — | uncertain significance |
| rs769458021 | 12:120,942,746 | C/T | — | uncertain significance |
| rs1671770 | 12:120,946,568 | A/G | — | — |
| rs1869058855 | 12:120,947,890 | G/T | — | uncertain significance |
| rs778420997 | 12:120,947,905 | T/A | — | uncertain significance |
| rs74578594 | 12:120,947,933 | G/C | — | benign |
| rs748981096 | 12:120,954,424 | T/G | — | uncertain significance |
| rs529965711 | 12:120,954,447 | C/T | — | likely benign |
| rs543355990 | 12:120,954,448 | G/A | — | uncertain significance |
| rs1307616339 | 12:120,954,453 | C/T | — | uncertain significance |
| rs759575749 | 12:120,954,463 | A/G | — | likely benign |
| rs1869386385 | 12:120,954,483 | T/G | — | uncertain significance |
| rs146254683 | 12:120,954,549 | T/C | — | likely benign |
| rs377668174 | 12:120,954,591 | C/T | — | conflicting classifications of pathogenicity |
| rs138814195 | 12:120,960,009 | G/A | — | likely benign |
| rs1177906759 | 12:120,960,036 | A/C | — | likely benign |
| rs201221898 | 12:120,960,055 | A/G | — | likely benign |
| rs503335 | 12:120,960,057 | T/C | — | benign |
| rs142784328 | 12:120,960,102 | A/G | — | likely benign |
| rs1241425911 | 12:120,960,108 | A/C | — | uncertain significance |
| rs2500583943 | 12:120,960,118 | T/C | — | uncertain significance |
| rs1167697 | 12:120,960,341 | A/T | downstream gene variant | — |
| rs1242725901 | 12:120,966,764 | C/T | — | uncertain significance |
| rs763690638 | 12:120,966,789 | C/A | — | likely benign |
| rs199752578 | 12:120,966,845 | G/A | — | uncertain significance |
| rs776156410 | 12:120,966,859 | A/G | — | uncertain significance |
| rs757373189 | 12:120,966,914 | T/G | — | uncertain significance |
| rs140043357 | 12:120,966,929 | T/C | — | likely benign |
| rs527630225 | 12:120,966,932 | C/T | — | likely benign |
| rs563912555 | 12:120,966,935 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.