MT-TS1:m.7486G>A

Tutor Research

Nomenclaturem.7486G>AchrMT:7486|ClinVar #374215

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,433 genomes

MitoTIP

12.7 · Q2 possibly pathogenic

PON-mt-tRNA

0.62 · likely pathogenic

Tutor Research

ClinVarUncertain significance

VCV000374215

Review: no assertion criteria providedSubmitters: 1view ↗Last evaluated: 2016/12/22 00:00

Progressive external ophthalmoplegia[MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO)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

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

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

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CCCCCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATG

MT-TS1 (L-strand)

m.7466–7506 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.7486 G→A.

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.

Open Research Assistant for MT-TS1 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.7486G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS1:m.7486G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS1:m.7486G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources