MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic aciduria ×
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: rs727504020
rs727504020 		0.882 0.200 6 49451591 stop gained G/A;C snv 4.0E-05; 2.4E-05
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012