GENETIC ENCYCLOPEDIA
ABOUT US
disease: AICAR transformylase/IMP cyclohydrolase deficiency
id
43
name
AICAR transformylase/IMP cyclohydrolase deficiency
variant-disease
ATIC, 125-129DUP, 130-132DEL AND AICAR transformylase/IMP cyclohydrolase deficiency
NM_004044.6(ATIC):c.794delT (p.Phe265Serfs) AND AICAR transformylase/IMP cyclohydrolase deficiency
NM_004044.6(ATIC):c.1277A>G (p.Lys426Arg) AND AICAR transformylase/IMP cyclohydrolase deficiency
NM_004044.6(ATIC):c.1751A>G (p.His584Arg) AND AICAR transformylase/IMP cyclohydrolase deficiency