GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
Disease: Guanidinoacetate methyltransferase deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs749390953
rs749390953 		1.000 0.080 19 1398995 frameshift variant C/-;CC delins 4.2E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2000 2004