Gene entry
NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
- Chromosome
- 2
- Cytoband
- 2q33.3
- Variants (rsID)
- 14
NDUFS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q33.3). Its official name is “NADH:ubiquinone oxidoreductase core subunit S1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs192949406Conflicting interpretationssingle nucleotide variantLeigh syndrome|Mitochondrial complex I deficiency, nuclear type 1
- rs2230892Conflicting interpretationssingle nucleotide variantLeigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 5
- rs78042826Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Mitochondrial complex 1 deficiency, nuclear type 5
- rs151279101Likely pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 5
- rs199422224Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 5
- rs370009373Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 5|See cases
- rs139690694Uncertain significancesingle nucleotide variant
- rs140126185Uncertain significancesingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 5
- rs201034481Uncertain significancesingle nucleotide variant
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.