Gene entry
MARS1
methionyl-tRNA synthetase 1
- Chromosome
- 12
- Cytoband
- 12q13.3
- Variants (rsID)
- 8
MARS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.3). Its official name is “methionyl-tRNA synthetase 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs117914586Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2U|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency|Charcot-Marie-Tooth disease
- rs143592405Othersingle nucleotide variantInterstitial Lung and Liver Disease
- rs201555303Pathogenicsingle nucleotide variantSevere early-onset pulmonary alveolar proteinosis due to MARS deficiency
- rs141105798Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2U|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- rs141340466Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2U|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- rs587777718Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2U|Charcot-Marie-Tooth disease|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
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.