MT-TN:m.5693T>C

Tutor Research

Nomenclaturem.5693T>CchrMT:5693|ClinVar #689976

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,432 genomes

MitoTIP

9.9 · Q3 possibly benign

PON-mt-tRNA

0.77 · pathogenic

Tutor Research

ClinVarUncertain significance

VCV000689976

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

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

MITOMAPReported

Live entry

Disease: EncephalomyopathyReported as: homoplasmicGenBank: 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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TAAACCCACAAACACTTAGTTAACAGCTAAGCACCCTAATC

MT-TN (L-strand)

m.5673–5713 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5693 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-TN →

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.5693T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TN:m.5693T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TN:m.5693T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources