Gene entry
MT-TH
No public annotation
- Chromosome
- —
- Cytoband
- —
- Variants (rsID)
- 4
MT-TH is a gene identifier without a current public annotation, located with no chromosome location recorded. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs376606918Conflicting interpretationssingle nucleotide variantJuvenile myopathy, encephalopathy, lactic acidosis AND stroke
- rs121434473Pathogenicsingle nucleotide variantPigmentary retinopathy and sensorineural deafness
- rs121434474Pathogenicsingle nucleotide variantMERRF/MELAS overlap syndrome|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Mitochondrial disease
- rs387906733Uncertain significancesingle nucleotide variantMitochondrial non-syndromic sensorineural hearing loss|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
