MT-TF Chromosome MT

Mitochondrially encoded tRNA-Phe (UUU/C)
3 variants 3 Health Risk

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What This Gene Does
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210049
Associated Conditions (10)
MELAS syndrome
Hypokalemia
Hypomagnesemia
Nephropathy
chronic tubulointerstitial
Mitochondrial disease
Epilepsy
mitochondrial
Interstitial nephritis
Primary mitochondrial disorders
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS1603218449 Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS2124590812 Health Risk Likely pathogenic Hypokalemia, Hypomagnesemia, Nephropathy
RS387906420 Health Risk Likely pathogenic Epilepsy, mitochondrial, MELAS syndrome
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