COX16
cytochrome c oxidase assembly factor COX16
Summary
Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 22. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2504455734 | 14:70,793,120 | G/A | — | uncertain significance |
| rs781059799 | 14:70,793,127 | G/A | — | pathogenic |
| rs1886077590 | 14:70,793,133 | T/C | — | uncertain significance |
| rs146019798 | 14:70,793,161 | G/C | — | uncertain significance |
| rs756319016 | 14:70,793,166 | T/C | — | uncertain significance |
| rs372378281 | 14:70,795,900 | C/T | — | likely benign |
| rs148696056 | 14:70,795,901 | G/A | — | uncertain significance |
| rs756535934 | 14:70,795,911 | A/G | — | uncertain significance |
| rs2504463436 | 14:70,795,929 | G/T | — | uncertain significance |
| rs8016418 | 14:70,798,289 | T/C | — | — |
| rs8017274 | 14:70,807,952 | C/A | — | — |
| rs573618970 | 14:70,809,415 | C/T | — | uncertain significance |
| rs34767236 | 14:70,810,569 | G/T | — | — |
| rs12588332 | 14:70,813,311 | T/C | intron variant | — |
| rs11620731 | 14:70,817,141 | T/C | intron variant | — |
| rs10140161 | 14:70,817,158 | A/C | intron variant | — |
| rs1285516396 | 14:70,826,247 | C/T | — | uncertain significance |
| rs753574098 | 14:70,826,256 | C/T | — | uncertain significance |
| rs2504529072 | 14:70,826,264 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.