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rs796052000(-;AACC)

From SNPedia
Carrier of a methylmalonic aciduria type cblC mutation
Is agenotype
ofrs796052000
GeneMMACHC
Chromosome1
Position45,508,263
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;AACC) 3 Carrier of a methylmalonic aciduria type cblC mutation
(AACC;AACC) 0 common in clinvar
(CCAA;CCAA) 0 common in clinvar
(I;I) 0 common genotype

Unaffected in absence of a second MMACHC gene mutation