GATM, glycine amidinotransferase, 2628

N. diseases: 46; N. variants: 23
Disease: Creatine deficiency, X-linked ×
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: rs80338737
rs80338737 		0.925 0.240 15 45369364 stop gained C/A;T snv 4.0E-06
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338738
rs80338738 		0.925 0.240 15 45369325 splice donor variant C/A snv 4.0E-06
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0