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rs149070244(C;G)

From SNPedia
Carrier of a glycine encephalopathy mutation
Is agenotype
ofrs149070244
GeneGLDC
Chromosome9
Position6,540,050
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a glycine encephalopathy mutation
(G;G) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia

Unaffected in absence of a second mutation in the GLDC gene