Gene entry
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5
- Chromosome
- 20
- Cytoband
- 20p12.1
- Variants (rsID)
- 17
NDUFAF5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p12.1). Its official name is “NADH:ubiquinone oxidoreductase complex assembly factor 5”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs148341631Benignsingle nucleotide variantMitochondrial complex I deficiency
- rs139219896Conflicting interpretationssingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency
- rs150613320Conflicting interpretationssingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 16|Inborn genetic diseases|Mitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1
- rs150955045Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency
- rs118203929Likely pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency
- rs757043077Pathogenicsingle nucleotide variantMitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency
- rs146837138Uncertain significancesingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex I deficiency
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.