MT-TE:m.14701C>T

Tutor Research

Nomenclaturem.14701C>TchrMT:14701|ClinVar #618220

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

MitoTIP

7.6 · Q4 likely benign

Tutor Research

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

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

ClinVarUncertain significance

VCV000618220

Review: criteria provided, multiple submitters, no conflictsSubmitters: 3view ↗Last evaluated: 2019/09/24 00:00

not provided[MedGen]

See cases

MITOMAPReported

Live entry

Disease: Reversible infantile respiratory chain deficiency (RIRCD)Reported as: homoplasmicGenBank: 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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GCACGGACTACAACCACGACCAATGATATGAAAAACCATCG

MT-TE (L-strand)

m.14681–14721 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.14701 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-TE →

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.14701C>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TE:m.14701C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TE:m.14701C>T

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources