Variant: rs267606890 

    present in Gene: COX3;ND4;ND3;ND4L
    present in Chromosome: MT
    Position on Chromosome: 10191
    Alleles of this Variant: T/C

rs267606890 in COX3;ND4;ND3;ND4L gene and Leigh Disease PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 17535832 2007 Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

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

PMID 14764913 2004 A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

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

rs267606890 in COX3;ND4;ND3;ND4L gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

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

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