present in Gene: ND5;ND4;ND4L
present in Chromosome: MT
Position on Chromosome: 11084
Alleles of this Variant: A/G
rs199476113 in
ND5;ND4;ND4L gene and
MELAS Syndrome
PMID 1323207 1992 A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.