Variant: rs121909307 

    present in Gene: GSS
    present in Chromosome: 20
    Position on Chromosome: 34942488
    Alleles of this Variant: C/T

rs121909307 in GSS gene and Gluthathione synthetase deficiency PMID 17479648 2007 Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.

PMID 25851806 2015 Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 8896573 1996 Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.