Viewing single variant in MT-RNR1

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

MT-RNR1:m.988G>A

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Nomenclaturem.988G>AchrMT:988|Not in ClinVar

Typemitochondrial rRNA variant

InheritanceMitochondrial

gnomAD mtDNA

36 hom · 2 het

of 56,407 genomes

Aminoglycosides: uncertain-risk MT-RNR1 variant (CPIC)

Weak or no evidence of increased risk: standard doses for the shortest feasible course with drug-level monitoring, and regular hearing checks. CPIC: optional recommendation · CPIC guideline, McDermott et al. 2022 (PMID 34032273)

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MITOMAPReported

Live entry

Disease: Possible maternally inherited or aminoglycoside-induced deafness (DEAF) risk factorGenBank: 58 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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TAAAGCTAAAACTCACCTGAGTTGTAAAAAACTCCAGTTGA

MT-RNR1

m.968–1008 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.988 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.