MT-ND5:m.12923G>A (p.Trp196Ter)

Tutor Research

Nomenclaturem.12923G>Ap.Trp196TerchrMT:12923|ClinVar #2443068

TypeNonsense

InheritanceMitochondrial

gnomAD mtDNA

Absent

~56k genomes

Tutor Research

ClinVarLikely pathogenic

VCV002443068

Review: criteria provided, single submitterSubmitters: 3view ↗Last evaluated: 2022/10/31 00:00

Leigh syndrome[OMIM][MedGen][Orphanet][MONDO]

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

Leber optic atrophy[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Leber hereditary optic neuropathy (LHON) · Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) · Leigh syndrome (LS)GenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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

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TATCCTACACTCCAACTCATGAGACCCACAACAAATAGCCC

MT-ND5

m.12903–12943 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.12923 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.