Variant: rs199476144 

    present in Gene: ND1;TRNV
    present in Chromosome: MT
    Position on Chromosome: 1624
    Alleles of this Variant: C/T

rs199476144 in ND1;TRNV gene and Leigh Disease PMID 11799391 2002 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

rs199476144 in ND1;TRNV gene and MELAS Syndrome PMID 11799391 2002 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

PMID 17886296 2008 Prevalence of mitochondrial DNA disease in adults.

PMID 18400783 2008 Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

PMID 25652200 2015 Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.