Viewing single variant in MT-RNR1

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

MT-RNR1:m.1227G>A

Tutor Research

Nomenclaturem.1227G>AchrMT:1227|Not in ClinVar

Typemitochondrial rRNA variant

InheritanceMitochondrial

gnomAD mtDNA

—

not loaded

Tutor Research

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

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

MITOMAPReported

Live entry

Disease: Translation disruption in cancer cellsReported 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)

||||

TTCTGTAATCGATAAACCCCGATCAACCTCACCACCTCTTG

MT-RNR1

m.1207–1247 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.1227 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-RNR1 →

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.1227G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-RNR1:m.1227G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-RNR1:m.1227G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources