Gene entry
SCO2
synthesis of cytochrome C oxidase 2
- Chromosome
- 22
- Cytoband
- 22q13.33
- Variants (rsID)
- 5
SCO2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.33). Its official name is “synthesis of cytochrome C oxidase 2”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs11479Benignsingle nucleotide variantFatal Infantile Cardioencephalomyopathy|Mitochondrial DNA depletion syndrome 1|Spinal muscular atrophy
- rs770533125Conflicting interpretationssingle nucleotide variantCytochrome-c oxidase deficiency disease|Fatal Infantile Cardioencephalomyopathy|Mitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy
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.