MT-TA:m.5613T>C

Tutor Research

Nomenclaturem.5613T>CchrMT:5613|ClinVar #1684909

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,431 genomes

MitoTIP

13.5 · Q2 possibly pathogenic

PON-mt-tRNA

0.68 · pathogenic

Tutor Research

Some data sources returned errors (1) — other data may still be shown below

gnomad: gnomAD lookup failed: Error: gnomAD API error: 400

ClinVarUncertain significance

VCV001684909

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2022/05/04 00:00

not specified[MedGen]

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO)Reported as: heteroplasmicGenBank: 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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CTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCC

MT-TA (L-strand)

m.5593–5633 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5613 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-TA →

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.5613T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TA:m.5613T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TA:m.5613T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources