Variant: rs1555889738

present in Gene: GSS;MYH7B present in Chromosome: 20 Position on Chromosome: 34955722 Alleles of this Variant: C/T

rs1555889738 in GSS;MYH7B gene and Gluthathione synthetase deficiency PMID 15717202 2005 Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

PMID 14635114 2003 Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.