C2orf69
chromosome 2 open reading frame 69
Summary
Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1022407764 | 2:200,776,166 | G/T | — | uncertain significance |
| rs975636316 | 2:200,776,178 | T/C | — | likely benign |
| rs1032126923 | 2:200,776,244 | C/G | — | uncertain significance |
| rs2077259168 | 2:200,776,284 | G/A | — | likely benign |
| rs2077260464 | 2:200,776,365 | C/T | — | likely benign |
| rs762882770 | 2:200,776,407 | G/A | — | likely benign |
| rs1574776469 | 2:200,776,462 | C/G | — | uncertain significance |
| rs1486681700 | 2:200,776,481 | C/G | — | uncertain significance |
| rs75214378 | 2:200,785,658 | G/A | intron variant | — |
| rs190789042 | 2:200,789,826 | A/G | — | likely benign |
| rs186306624 | 2:200,789,881 | A/T | — | likely benign |
| rs2106636545 | 2:200,790,380 | G/A | — | pathogenic |
| rs763394464 | 2:200,790,382 | G/A | — | likely benign |
| rs199913055 | 2:200,790,461 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.