Variant: rs281865494 

    present in Gene: TK2
    present in Chromosome: 16
    Position on Chromosome: 66529027
    Alleles of this Variant: G/A

rs281865494 in TK2 gene and Depletion of mitochondrial DNA PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

PMID 16504786 2006 New mutations in TK2 gene associated with mitochondrial DNA depletion.

rs281865494 in TK2 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) PMID 15907288 2005 Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

PMID 12391347 2002 Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

PMID 11687801 2001 Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

PMID 15639197 2005 Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.