Gene entry
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1
- Chromosome
- 11
- Cytoband
- 11q13.2
- Variants (rsID)
- 9
NDUFV1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.2). Its official name is “NADH:ubiquinone oxidoreductase core subunit V1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs11540012Conflicting interpretationssingle nucleotide variantLeigh syndrome|Mitochondrial complex I deficiency, nuclear type 1
- rs140445386Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Leigh syndrome
- rs187400726Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Leigh syndrome
- rs199543483Conflicting interpretationssingle nucleotide variantLeigh syndrome|Mitochondrial complex I deficiency, nuclear type 1
- rs373940385Conflicting interpretationssingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Leigh syndrome
- rs201289242Likely pathogenicsingle nucleotide variant
- rs121913659Pathogenicsingle nucleotide variantMitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 4|Mitochondrial complex I deficiency, nuclear type 1
- rs142982022Uncertain significancesingle nucleotide variantMitochondrial complex I deficiency, nuclear type 1|Leigh 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.