MT-TS2:m.12257G>A

Tutor Research

Nomenclaturem.12257G>AchrMT:12257|ClinVar #4849726

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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MitoTIP

16.9 · Q1 likely 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

ClinVarUncertain significance

VCV004849726

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2025/12/09 00:00

Retinitis pigmentosa-deafness syndrome[OMIM][MedGen][MONDO]

MITOMAPUncertain significancereported

Live entry

Disease: Mitochondrial myopathy, retinitis pigmentosa (RP), sensorineural hearing loss (SNHL)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

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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CCCCCATGTCTAACAACATGGCTTTCTCAACTTTTAAAGGA

MT-TS2 · ends m.12265

MT-TL2 · starts m.12266

m.12237–12277 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12257 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-TS2 →

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.12257G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS2:m.12257G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS2:m.12257G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources