Viewing single variant in MT-TL2

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

MT-TL2:m.12313T>C

Tutor Research

Nomenclaturem.12313T>CchrMT:12313|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

MitoTIP

16.0 · Q2 possibly pathogenic

Tutor Research

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

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

MITOMAPReported

Live entry

Disease: Facioscapulohumeral muscular dystrophy (FSHD)Reported 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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GGTCTTAGGCCCCAAAAATTTTGGTGCAACTCCAAATAAAA

MT-TL2

m.12293–12333 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12313 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-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.12313T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TL2:m.12313T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TL2:m.12313T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources