Viewing single variant in MT-ND4

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-ND4:m.11527C>T (p.His256=)

Tutor Research

Nomenclaturem.11527C>Tp.His256=chrMT:11527|Not in ClinVar

TypeSynonymous

InheritanceMitochondrial

gnomAD mtDNA

9 hom · 0 het

of 56,431 genomes

Tutor Research

MITOMAPReported

Live entry

Disease: ND4 mutation set found in a Multiple Sclerosis patientReported as: homoplasmicGenBank: 31 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)

||||

CTCAACCCCCTGACAAAACACATAGCCTACCCCTTCCTTGT

MT-ND4

m.11507–11547 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.11527 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-ND4 →

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.11527C>T

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND4:m.11527C>T (p.His256=)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND4:m.11527C>T (p.His256=)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources