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rs398124296(-;-)

From SNPedia

methylmalonic aciduria, cblC type
Is agenotype
ofrs398124296
GeneMMACHC
Chromosome1
Position45,509,024
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 8 methylmalonic aciduria, cblC type
(-;AAG) 2 carrier of a methylmalonic aciduria allele
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 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.