Gene entry
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1
- Chromosome
- 15
- Cytoband
- 15q15.1
- Variants (rsID)
- 10
NDUFAF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q15.1). Its official name is “NADH:ubiquinone oxidoreductase complex assembly factor 1”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs12900702Benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs1899Benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 11
- rs3204853Benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 11
- rs34979001Benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs35227875Benignsingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 11
- rs145122315Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs150539399Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs200472799Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
- rs372385045Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1
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.