rs527307703

This variant is located in the GARS1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Charcot-Marie-Tooth disease type 2D; Distal spinal muscular atrophy; Neuronopathy, distal hereditary motor, type 5A

About GARS1

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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