Variant: rs376281345

present in Gene: NDUFS4 present in Chromosome: 5 Position on Chromosome: 53603451 Alleles of this Variant: G/A

rs376281345 in NDUFS4 gene and Leigh Disease PMID 12616398 2003 Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

PMID 19107570 2008 A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.