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rs121918253(G;T)

From SNPedia
Carrier for a methylmalonic aciduria mutation
Is agenotype
ofrs121918253
GeneMUT
Chromosome6
Position49,459,118
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)

Unaffected in absence of another pathogenic mutation in this same gene. Risk of having children with symptoms in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic aciduria, which usually appear in early infancy, vary from mild to life-threatening. See details via ClinVar link on main SNP/rs# page.