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rs121918243(A;A)

From SNPedia

methylmalonic aciduria, cblC type
Is agenotype
ofrs121918243
GeneMMACHC
Chromosome1
Position45,508,848
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(A;A) 8 methylmalonic aciduria, cblC type
(A;G) 2 carrier of a methylmalonic aciduria allele
(G;G) 0 common in clinvar

This genotype represents two defective MMACHC gene alleles, leading to an inborn error of metabolism known as methylmalonic aciduria, cblC type.