Viewing single variant in MT-TS1

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

MT-TS1:m.7451A>T

Tutor Research

Nomenclaturem.7451A>TchrMT:7451|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

MitoTIP

17.0 · Q1 likely pathogenic

Tutor Research

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO)+ptosisReported 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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TACATAAAATCTAGACAAAAAAGGAAGGAATCGAACCCCCC

MT-CO1 · ends m.7445

MT-TS1 (L-strand) · starts m.7446

m.7431–7471 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.7451 A→T.

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.7451A>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS1:m.7451A>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS1:m.7451A>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources