Variant: rs199476117 

    present in Gene: ND3;ND4;ND4L;COX3
    present in Chromosome: MT
    Position on Chromosome: 10158
    Alleles of this Variant: T/C

rs199476117 in ND3;ND4;ND4L;COX3 gene and Leigh Disease PMID 14764913 2004 A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

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

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 16023078 2005 Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.

rs199476117 in ND3;ND4;ND4L;COX3 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 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.