Gene entry
NDUFA1
NADH:ubiquinone oxidoreductase subunit A1
- Chromosome
- X
- Cytoband
- Xq24
- Variants (rsID)
- 8
NDUFA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq24). Its official name is “NADH:ubiquinone oxidoreductase subunit A1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1801316Benignsingle nucleotide variantMitochondrial complex I deficiency|History of neurodevelopmental disorder|Mitochondrial complex 1 deficiency, nuclear type 12
- rs104894884Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 12
- rs104894885Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 12
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.