MT-TH:m.12148T>C

Tutor Research

Nomenclaturem.12148T>CchrMT:12148|ClinVar #690133

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,433 genomes

MitoTIP

16.2 · Q2 possibly pathogenic

PON-mt-tRNA

0.52 · likely pathogenic

Tutor Research

ClinVarUncertain significance

VCV000690133

Review: reviewed by expert panelSubmitters: 2view ↗Last evaluated: 2025/01/13 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPUncertain significancereported

Live entry

Disease: Developmental delay, optic atrophy, cataract, hearing loss, myopathyReported 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)

||||

TTTTCCTCTTGTAAATATAGTTTAACCAAAACATCAGATTG

MT-ND4 · ends m.12137

MT-TH · starts m.12138

m.12128–12168 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12148 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.12148T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TH:m.12148T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TH:m.12148T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources