Gene entry
TRMU
tRNA mitochondrial 2-thiouridylase
- Chromosome
- 22
- Cytoband
- 22q13.31
- Variants (rsID)
- 13
TRMU is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.31). Its official name is “tRNA mitochondrial 2-thiouridylase”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs11090865Benignsingle nucleotide variantDeafness, mitochondrial, modifier of|Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs138044544Benignsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs144586525Benignsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs113846383Conflicting interpretationssingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs201372242Conflicting interpretationssingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs754239335Conflicting interpretationssingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs141601555Likely benignsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs118203992Pathogenicsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs367683258Pathogenicsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- rs387907022Pathogenicsingle nucleotide variantAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteins|Inborn genetic diseases
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.