Variant: rs1060502838

present in Gene: GARS1 present in Chromosome: 7 Position on Chromosome: 30621448 Alleles of this Variant: A/G

rs1060502838 in GARS1 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16014653 2005 Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

PMID 25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.