MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic aciduria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504020
rs727504020
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855119
Disease:
Methylmalonic aciduria 		0.010 GeneticVariation BEFREE The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C→T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon). 23024777 2012
dbSNP: rs121918258
rs121918258
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855119
Disease:
Methylmalonic aciduria 		0.010 GeneticVariation BEFREE Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. 16451139 2006
dbSNP: rs748129702
rs748129702
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855119
Disease:
Methylmalonic aciduria 		0.010 GeneticVariation BEFREE Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. 11350191 2001