Gene entry
SURF1
SURF1 cytochrome c oxidase assembly factor
- Chromosome
- 9
- Cytoband
- 9q34.2
- Variants (rsID)
- 6
SURF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.2). Its official name is “SURF1 cytochrome c oxidase assembly factor”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs200702528Conflicting interpretationssingle nucleotide variantLeigh syndrome
- rs72619327Conflicting interpretationssingle nucleotide variantLeigh syndrome
- rs375398247Pathogenicsingle nucleotide variant
- rs863224229PathogenicDeletionLeigh syndrome
- rs201492662Uncertain significancesingle nucleotide variantLeigh 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.