MT-TN:m.5698G>A

Tutor Research

Nomenclaturem.5698G>AchrMT:5698|ClinVar #3338063

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,428 genomes

MitoTIP

12.5 · Q3 possibly benign

PON-mt-tRNA

0.73 · pathogenic

Tutor Research

ClinVarLikely pathogenic

VCV003338063

Review: no assertion criteria providedSubmitters: 1view ↗Last evaluated: 2022/06/01 00:00

Pure mitochondrial myopathy[MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO) · Mitochondrial myopathy (MM)Reported 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)

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CCACAAACACTTAGTTAACAGCTAAGCACCCTAATCAACTG

MT-TN (L-strand)

m.5678–5718 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5698 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-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.5698G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TN:m.5698G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TN:m.5698G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources