MT-TK Chromosome MT
Mitochondrially encoded tRNA-Lys (AAA/G)
Upload your DNA to see your personal genotypes for variants in MT-TK.
What This Gene Does
"CLNSIG=5
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210156
Associated Conditions (14)
MERRF/MELAS overlap syndrome
MERRF syndrome
MELAS syndrome
Mitochondrial disease
Cardiomyopathy and Deafness
Leigh syndrome
MT-TK-related disorder
Mitochondrial DNA depletion syndrome 1
Primary mitochondrial disorders
Parkinson disease
mitochondrial
MT-TK-related mitochondrial disorder
Complex hereditary spastic paraplegia
Thrombocythemia 2
Key Variants
RS118192099
Likely pathogenic
MERRF/MELAS overlap syndrome, MERRF syndrome, MELAS syndrome
Health Risk
RS118192100
Likely pathogenic
Cardiomyopathy and Deafness, Leigh syndrome, MERRF syndrome
Health Risk
RS118192101
Likely pathogenic
Mitochondrial DNA depletion syndrome 1, Mitochondrial disease, Primary mitochondrial disorders
Health Risk
RS2521961657
Likely pathogenic
Mitochondrial disease, Primary mitochondrial disorders, Mitochondrial disease
Health Risk
RS118192098
Pathogenic
Leigh syndrome, MERRF syndrome, Parkinson disease
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118192099 | Health Risk | Likely pathogenic | MERRF/MELAS overlap syndrome, MERRF syndrome, MELAS syndrome |
| RS118192100 | Health Risk | Likely pathogenic | Cardiomyopathy and Deafness, Leigh syndrome, MERRF syndrome |
| RS118192101 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 1, Mitochondrial disease, Primary mitochondrial disorders |
| RS2521961657 | Health Risk | Likely pathogenic | Mitochondrial disease, Primary mitochondrial disorders, Mitochondrial disease |
| RS118192098 | Health Risk | Pathogenic | Leigh syndrome, MERRF syndrome, Parkinson disease |