MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
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: rs121918258
rs121918258
0.851 0.200 6 49457801 missense variant C/A;T snv
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
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
dbSNP: rs748129702
rs748129702
1.000 0.080 6 49451555 stop gained C/A snv 8.0E-06 7.0E-06
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001