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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.