Gene entry
COQ8A
coenzyme Q8A
- Chromosome
- 1
- Cytoband
- 1q42.13
- Variants (rsID)
- 25
COQ8A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.13). Its official name is “coenzyme Q8A”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs41303129Benignsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency|Joubert syndrome 17
- rs111529228Conflicting interpretationssingle nucleotide variantAutosomal recessive cerebellar ataxia|Autosomal recessive ataxia due to ubiquinone deficiency
- rs11549709Conflicting interpretationssingle nucleotide variantCoenzyme Q10 deficiency, Spinocerebellar Ataxia Type|Autosomal recessive ataxia due to ubiquinone deficiency
- rs137872711Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
- rs139133094Conflicting interpretationssingle nucleotide variantAutosomal recessive cerebellar ataxia|Autosomal recessive ataxia due to ubiquinone deficiency
- rs144147839Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency
- rs145034527Conflicting interpretationssingle nucleotide variantAutosomal recessive cerebellar ataxia|Autosomal recessive ataxia due to ubiquinone deficiency|See cases
- rs199874519Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Autosomal recessive ataxia due to ubiquinone deficiency
- rs376462712Conflicting interpretationssingle nucleotide variantCoenzyme Q10 deficiency, Spinocerebellar Ataxia Type|Autosomal recessive cerebellar ataxia
- rs73087649Conflicting interpretationssingle nucleotide variantAutosomal recessive cerebellar ataxia|Autosomal recessive ataxia due to ubiquinone deficiency
- rs774789966Conflicting interpretationssingle nucleotide variantCoenzyme Q10 deficiency, Spinocerebellar Ataxia Type|Autosomal recessive ataxia due to ubiquinone deficiency
- rs119468004Pathogenicsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency|See cases|Abnormality of the nervous system
- rs119468005Pathogenicsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency
- rs119468009Pathogenicsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency
- rs201908721Pathogenicsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency
- rs752130338Pathogenicsingle nucleotide variantAutosomal recessive ataxia due to ubiquinone deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.