Viewing single variant in MT-TH

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

MT-TH:m.12182A>G

Tutor Research

Nomenclaturem.12182A>GchrMT:12182|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

MitoTIP

12.4 · Q3 possibly benign

Tutor Research

MITOMAPAuthor considered as VUS

Live entry

Disease: Sclerosis-like symptoms + white matter alterationsReported as: homoplasmicGenBank: 2 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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CAGATTGTGAATCTGACAACAGAGGCTTACGACCCCTTATT

MT-TH

m.12162–12202 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12182 A→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.

Open Research Assistant for MT-TH →

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.12182A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TH:m.12182A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TH:m.12182A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources