C2ORF69 Chromosome 2
Chromosome 2 open reading frame 69
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What This Gene Does
Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 53
Key Variants
RS2469464326
Likely pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS1277326765
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2106636277
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2106636278
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2106636543
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2106636544
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2106636545
Pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
RS2077262520
Pathogenic/Likely pathogenic
Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469464326 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS1277326765 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2106636277 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2106636278 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2106636543 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2106636544 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2106636545 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |
| RS2077262520 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53 |