Gene entry
SCO1
synthesis of cytochrome C oxidase 1
- Chromosome
- 17
- Cytoband
- 17p13.1
- Variants (rsID)
- 6
SCO1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “synthesis of cytochrome C oxidase 1”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs61753148Conflicting interpretationssingle nucleotide variantCytochrome-c oxidase deficiency disease|Leigh syndrome
- rs142330047Likely benignsingle nucleotide variant
- rs147487151Uncertain significancesingle nucleotide variantInfantile encephalopathy|Cytochrome-c oxidase deficiency disease|Cytochrome-c oxidase deficiency disease|Leigh syndrome
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.