Viewing single variant in MT-TA

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-TA:m.5595G>A

Tutor Research

Nomenclaturem.5595G>AchrMT:5595|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

0 hom · 1 het

of 56,432 genomes

MitoTIP

14.6 · Q2 possibly pathogenic

PON-mt-tRNA

0.46 · likely neutral

Tutor Research

MITOMAPReported

Live entry

Disease: Reported in tic disorder patientGenBank: 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)

||||

TTCTGTAACAGCTAAGGACTGCAAAACCCCACTCTGCATCA

MT-TW · ends m.5579

MT-TA (L-strand) · starts m.5587

m.5575–5615 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5595 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-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.5595G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TA:m.5595G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TA:m.5595G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources