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rs121918258(A;G)

From SNPedia
(Redirected from I5007475(C;T))
Carrier for a methylmalonic aciduria mutation
Is agenotype
ofrs121918258
GeneMUT
Chromosome6
Position49,457,801
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8.8 Methylmalonic aciduria (predicted)
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 0 common in clinvar

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.