Properties

MORBIDMAP :NAME MM: N-acetylglutamate synthase deficiency :MORBID_ID 237310 :NUM 3 :SYM (NAGS) :LOCUS 17q21.31 :OMIM_ID 608300 :SNP N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS, TRP324TER; rs104894604 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS, LEU430PRO; rs104894605 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS, TRP484ARG; rs104894606 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS, GLU433ASP; rs104894607 :AAUSHI N_ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY :AAUSHIGENE N_ACETYLGLUTAMATE_SYNTHASE_MITOCHONDRIAL