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rs121918240(C;C)

From SNPedia

methylmalonic aciduria, cblC type
Is agenotype
ofrs121918240
GeneMMACHC
Chromosome1
Position45,508,282
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(C;C) 8 methylmalonic aciduria, cblC type
(C;T) 2 carrier of a methylmalonic aciduria allele
(T;T) 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.