MT-TH
Chr MTtRNA-His
Also known as: MTTH
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
41 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 1 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 16 |
Likely Benign | — | — | — | — | 4 |
Benign | — | — | — | — | 14 |
Conflicting | — | 2 | |||
| Total | — | 39 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →20 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap MT-TH — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
MT-TH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools