present in Gene: ND2;ND1
present in Chromosome: MT
Position on Chromosome: 3398
Alleles of this Variant: T/C
rs201212638 in
ND2;ND1 gene and
MELAS Syndrome
PMID 8723687 1996 A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.