Viewing single variant in MT-TS1

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

MT-TS1:m.7472A>CA

Tutor Research

Nomenclaturem.7472A>CAchrMT:7466|Not in ClinVar

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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Tutor Research

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

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

MITOMAPNot in MITOMAP’s disease table (as of 2026-10-07); it may have been added since.

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Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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-TS1 →

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.7472A>CA

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TS1:m.7472A>CA

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TS1:m.7472A>CA

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources