Variant: rs760031222 

    present in Gene: GCLC
    present in Chromosome: 6
    Position on Chromosome: 53520845
    Alleles of this Variant: G/A

rs760031222 in GCLC gene and Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to PMID 10515893 1999 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.

PMID 10733484 2000 A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.

PMID 12663448 2003 A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.