MT-TH:m.12201T>C

Tutor Research

Nomenclaturem.12201T>CchrMT:12201|ClinVar #30004

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,426 genomes

MitoTIP

15.0 · Q2 possibly pathogenic

PON-mt-tRNA

0.46 · likely neutral

Tutor Research

Some data sources returned errors (1) — other data may still be shown below

gnomad: gnomAD lookup failed: Error: gnomAD API error: 400

ClinVarLikely pathogenic

VCV000030004

Review: reviewed by expert panelSubmitters: 4view ↗Last evaluated: 2023/04/17 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPLikely pathogenicconfirmed

Live entry

Disease: Maternally inherited non-syndromic deafnessReported as: heteroplasmicGenBank: 1 sequence

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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CAGAGGCTTACGACCCCTTATTTACCGAGAAAGCTCACAAG

MT-TH · ends m.12206

MT-TS2 · starts m.12207

m.12181–12221 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12201 T→C.

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.12201T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TH:m.12201T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TH:m.12201T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources