MT-TC:m.5814T>C

Tutor Research

Nomenclaturem.5814T>CchrMT:5814|ClinVar #30001

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

777 hom · 2 het

of 56,413 genomes

MitoTIP

11.4 · Q3 possibly benign

PON-mt-tRNA

0.58 · likely pathogenic

Tutor Research

ClinVarLikely benign

VCV000030001

Review: reviewed by expert panelSubmitters: 4view ↗Last evaluated: 2023/06/26 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPLikely benignreported

Live entry

Disease: Encephalopathy · GoutReported as: heteroplasmicGenBank: 273 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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TTTGCAATTCAATATGAAAATCACCTCGGAGCTGGTAAAAA

MT-TC (L-strand) · ends m.5826

MT-TY (L-strand) · starts m.5826

m.5794–5834 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5814 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-TC →

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.5814T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TC:m.5814T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TC:m.5814T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources