COQ7 Chromosome 16
Coenzyme Q7, hydroxylase
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What This Gene Does
The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Associated Conditions (5)
COQ7-related disorder
Primary coenzyme Q10 deficiency 8
Neuronopathy
distal hereditary motor
autosomal recessive 9
Key Variants
RS138449068
Conflicting classifications of pathogenicity
Health Risk
RS139931303
Conflicting classifications of pathogenicity
COQ7-related disorder, COQ7-related disorder
Health Risk
RS140688283
Conflicting classifications of pathogenicity
Health Risk
RS184471591
Conflicting classifications of pathogenicity
Health Risk
RS2509307905
Conflicting classifications of pathogenicity
COQ7-related disorder, COQ7-related disorder
Health Risk
RS746489573
Conflicting classifications of pathogenicity
Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor
Health Risk
RS769570290
Conflicting classifications of pathogenicity
Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor
Health Risk
RS770654508
Conflicting classifications of pathogenicity
Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor
Health Risk
RS1962955145
Likely pathogenic
Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
Health Risk
RS2509308079
Likely pathogenic
Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
Health Risk
RS138490803
Pathogenic
Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
Health Risk
RS1400703292
Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 9
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138449068 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139931303 | Health Risk | Conflicting classifications of pathogenicity | COQ7-related disorder, COQ7-related disorder |
| RS140688283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184471591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2509307905 | Health Risk | Conflicting classifications of pathogenicity | COQ7-related disorder, COQ7-related disorder |
| RS746489573 | Health Risk | Conflicting classifications of pathogenicity | Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor |
| RS769570290 | Health Risk | Conflicting classifications of pathogenicity | Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor |
| RS770654508 | Health Risk | Conflicting classifications of pathogenicity | Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor |
| RS1962955145 | Health Risk | Likely pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS2509308079 | Health Risk | Likely pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS138490803 | Health Risk | Pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS1400703292 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 9 |
| RS1436765596 | Health Risk | Pathogenic | Primary coenzyme Q10 deficiency 8, Neuronopathy, distal hereditary motor |
| RS2509348557 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 9 |
| RS2509349181 | Health Risk | Pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS2509372929 | Health Risk | Pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS864321686 | Health Risk | Pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |
| RS2142400288 | Health Risk | Pathogenic/Likely pathogenic | Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8 |