Viewing single variant in MT-ATP6

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

MT-ATP6:m.8993TG>CA (p.Leu156ProfsTer?)

Tutor Research

Nomenclaturem.8993TG>CAp.Leu156ProfsTer?chrMT:8993|Not in ClinVar

TypeFrameshift

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

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)

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-ATP6 →

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.8993TG>CA

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ATP6:m.8993TG>CA (p.Leu156ProfsTer?)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ATP6:m.8993TG>CA (p.Leu156ProfsTer?)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources