MT-TP:m.15990C>T

Tutor Research

Nomenclaturem.15990C>TchrMT:15990|ClinVar #9570

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,429 genomes

MitoTIP

12.8 · Q2 possibly pathogenic

PON-mt-tRNA

0.52 · likely pathogenic

Tutor Research

ClinVarLikely pathogenic

VCV000009570

Review: reviewed by expert panelSubmitters: 2view ↗Last evaluated: 2023/02/13 00:00

Mitochondrial disease[MedGen][Orphanet][MONDO]

MITOMAPLikely pathogenicconfirmed

Live entry

Disease: Mitochondrial myopathy (MM) · Progressive external ophthalmoplegia (PEO)Reported 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)

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TTTAACTCCACCATTAGCACCCAAAGCTAAGATTCTAATTT

MT-TP (L-strand)

m.15970–16010 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.15990 C→T.

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-TP →

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.15990C>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TP:m.15990C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TP:m.15990C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources