Gene entry
GARS1
glycyl-tRNA synthetase 1
- Chromosome
- 7
- Cytoband
- 7p14.3
- Variants (rsID)
- 17
GARS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p14.3). Its official name is “glycyl-tRNA synthetase 1”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs118002895Benignsingle nucleotide variant
- rs2230310Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Distal spinal muscular atrophy|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease
- rs62636572Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Neuronopathy, distal hereditary motor, type 5A|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease
- rs192443850Conflicting interpretationssingle nucleotide variantDistal spinal muscular atrophy|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2D
- rs199741850Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2D|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2
- rs200279483Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
- rs200887429Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2D
- rs201399681Conflicting interpretationssingle nucleotide variantDistal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2D|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2
- rs370608239Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2D|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2
- rs376324026Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
- rs765478968Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease
- rs137852643Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
- rs137852646Pathogenicsingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease type 2
- rs781520666Uncertain significancesingle nucleotide variant
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.