Variant: rs267606891 

    present in Gene: ND4;COX3;ND3;ND4L
    present in Chromosome: MT
    Position on Chromosome: 10197
    Alleles of this Variant: G/A

rs267606891 in ND4;COX3;ND3;ND4L gene and Leigh Disease PMID 17152068 2007 A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

PMID 19458970 2009 Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

rs267606891 in ND4;COX3;ND3;ND4L gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.