Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918256
rs121918256
MMUT
0.720 GeneticVariation BEFREE The detection of the novel c.481G>A (p.Gly161Arg) and the known c.655A>T (p.Asn219Tyr) MUT gene mutations identified the first patient as affected by methylmalonic acidaemia mut type. 19588269

2009
dbSNP: rs121918256
rs121918256
MMUT
A 0.720 CausalMutation CLINVAR Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 17113806

2007
dbSNP: rs121918256
rs121918256
MMUT
A 0.720 CausalMutation CLINVAR Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 16281286

2006
dbSNP: rs121918256
rs121918256
MMUT
0.720 GeneticVariation BEFREE N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 11528502

2001