MT-TF:m.643A>G

Tutor Research

Nomenclaturem.643A>GchrMT:643|ClinVar #689830

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,432 genomes

MitoTIP

11.3 · Q3 possibly benign

PON-mt-tRNA

0.59 · likely pathogenic

Tutor Research

ClinVarUncertain significance

VCV000689830

Review: criteria provided, multiple submitters, no conflictsSubmitters: 2view ↗Last evaluated: 2021/07/07 00:00

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

Hypokalemia[MedGen]

Hypomagnesemia[OMIM][MedGen][MONDO]

Chronic kidney disease[MedGen][MONDO]

MITOMAPReported

Live entry

Disease: Gitelman-like syndromeReported 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)

||||

ACGGGCTCACATCACCCCATAAACAAATAGGTTTGGTCCTA

MT-TF · ends m.647

MT-RNR1 · starts m.648

m.623–663 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.643 A→G.

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-TF →

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.643A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TF:m.643A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TF:m.643A>G

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources