MMAB, metabolism of cobalamin associated B, 326625

N. diseases: 46; N. variants: 40
Disease: Methylmalonic aciduria cblB type ×
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: rs1555275604
rs1555275604 		1.000 0.080 12 109568865 splice acceptor variant T/- del
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555274254
rs1555274254 		1.000 0.080 12 109559157 splice acceptor variant T/G snv
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006