MT-TD:m.7520G>A

Tutor Research

Nomenclaturem.7520G>AchrMT:7520|ClinVar #690036

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,433 genomes

MitoTIP

13.0 · Q2 possibly pathogenic

PON-mt-tRNA

0.41 · likely neutral

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

VCV000690036

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

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

MITOMAPReported

Live entry

Disease: Sporadic bilateral optic neuropathyGenBank: 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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CTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCA

MT-TS1 (L-strand) · ends m.7514

MT-TD · starts m.7518

m.7500–7540 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.7520 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-TD →

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.7520G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TD:m.7520G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TD:m.7520G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources