MT-TL2:m.12279A>G

Tutor Research

Nomenclaturem.12279A>GchrMT:12279|ClinVar #690183

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

43 hom · 3 het

of 56,433 genomes

MitoTIP

2.9 · Q4 likely benign

PON-mt-tRNA

0.37 · likely neutral

Tutor Research

ClinVarBenign

VCV000690183

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2019/07/12 00:00

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

MITOMAPReported

Live entry

Disease: Reported in tic disorder patientGenBank: 267 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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TTTCTCAACTTTTAAAGGATAACAGCTATCCATTGGTCTTA

MT-TS2 · ends m.12265

MT-TL2 · starts m.12266

m.12259–12299 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12279 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-TL2 →

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.12279A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TL2:m.12279A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TL2:m.12279A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources