Variant: rs137852644 

    present in Gene: GARS1
    present in Chromosome: 7
    Position on Chromosome: 30601179
    Alleles of this Variant: T/C

rs137852644 in GARS1 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V PMID 23279345 2012 Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

PMID 12690580 2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PMID 24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.