MT-TW:m.5513G>A

Tutor Research

Nomenclaturem.5513G>AchrMT:5513|ClinVar #3359048

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

MitoTIP

10.2 · Q3 possibly benign

Tutor Research

ClinVarLikely pathogenic

VCV003359048

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2024/08/07 00:00

New-onset refractory status epilepticus[MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Mitochondrial encephalomyopathy with retinitis pigmentosa (RP)Reported as: heteroplasmicGenBank: 1 sequence

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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TTTATACTAATAATCTTATAGAAATTTAGGTTAAATACAGA

MT-ND2 · ends m.5511

MT-TW · starts m.5512

m.5493–5533 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5513 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-TW →

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.5513G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TW:m.5513G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TW:m.5513G>A

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources