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rs114925667(A;G)

From SNPedia
Carrier of an early infantile epileptic encephalopathy mutation
Is agenotype
ofrs114925667
GeneNPHP3-ACAD11, UBA5
Chromosome3
Position132,675,903
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 9 early infantile epileptic encephalopathy-44
(A;G) 3 Carrier of an early infantile epileptic encephalopathy mutation
(G;G) 0 common/normal

Unaffected unless carrying another pathogenic mutation in UBA5 gene