MT-TH:m.12192G>A

Tutor Research

Nomenclaturem.12192G>AchrMT:12192|ClinVar #9608

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

—

not loaded

MitoTIP

2.7 · Q4 likely benign

Tutor Research

ClinVarBenign

VCV000009608

Review: criteria provided, single submitterSubmitters: 3view ↗Last evaluated: 2019/07/12 00:00

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Maternally inherited cardiomyopathy (MICM) · Possible G15927A deafness modulatorReported as: homoplasmicGenBank: 159 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)

||||

ATCTGACAACAGAGGCTTACGACCCCTTATTTACCGAGAAA

MT-TH · ends m.12206

MT-TS2 · starts m.12207

m.12172–12212 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12192 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-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.12192G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TH:m.12192G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TH:m.12192G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources