MT-TL1:m.3254C>A

Tutor Research

Nomenclaturem.3254C>AchrMT:3254|ClinVar #689860

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

137 hom · 1 het

of 56,431 genomes

MitoTIP

13.8 · Q2 possibly pathogenic

PON-mt-tRNA

0.16 · neutral

Tutor Research

ClinVarBenign

VCV000689860

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

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

MITOMAPReported

Live entry

Disease: Gestational Diabetes (gestational diabetes mellitus (GDM))Reported as: heteroplasmicGenBank: 44 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)

||||

AGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTA

MT-TL1

m.3234–3274 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.3254 C→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-TL1 →

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.3254C>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TL1:m.3254C>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TL1:m.3254C>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources