Variant: rs121907946 

    present in Gene: LOC105375095;GCLC
    present in Chromosome: 6
    Position on Chromosome: 53507001
    Alleles of this Variant: T/A;C

rs121907946 in LOC105375095;GCLC gene and Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to PMID 12663448 2003 A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.

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.