Viewing single variant in MT-TF

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-TF:m.618T>G

Tutor Research

Nomenclaturem.618T>GchrMT:618|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

MitoTIP

16.5 · Q1 likely pathogenic

Tutor Research

MITOMAPReported

Live entry

Disease: Ptosis chronic progressive external ophthalmoplegia (CPEO) mitochondrial myopathy (MM) & exercise intolerance (EXIT)Reported as: heteroplasmicGenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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AAAGCAATACACTGAAAATGTTTAGACGGGCTCACATCACC

MT-TF

m.598–638 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.618 T→G.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.