MT-TH Chromosome MT
Mitochondrially encoded tRNA-His (CAU/C)
Upload your DNA to see your personal genotypes for variants in MT-TH.
What This Gene Does
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210176
Associated Conditions (6)
MELAS syndrome
MERRF/MELAS overlap syndrome
Mitochondrial disease
MT-TH-related disorders
Primary mitochondrial disorders
Mitochondrial non-syndromic sensorineural hearing loss
Key Variants
RS1057520099
Conflicting classifications of pathogenicity
MELAS syndrome, MELAS syndrome
Health Risk
RS376606918
Conflicting classifications of pathogenicity
MELAS syndrome, MELAS syndrome
Health Risk
RS121434474
Likely pathogenic
MERRF/MELAS overlap syndrome, MELAS syndrome, Mitochondrial disease
Health Risk
RS387906733
Likely pathogenic
Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome, Mitochondrial disease
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520099 | Health Risk | Conflicting classifications of pathogenicity | MELAS syndrome, MELAS syndrome |
| RS376606918 | Health Risk | Conflicting classifications of pathogenicity | MELAS syndrome, MELAS syndrome |
| RS121434474 | Health Risk | Likely pathogenic | MERRF/MELAS overlap syndrome, MELAS syndrome, Mitochondrial disease |
| RS387906733 | Health Risk | Likely pathogenic | Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome, Mitochondrial disease |