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rs121964980(A;G)

From SNPedia
Carrier of a glycine encephalopathy mutation
Is agenotype
ofrs121964980
GeneGLDC
Chromosome9
Position6,554,768
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(A;G) 3 Carrier of a glycine encephalopathy mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second mutation in the GLDC gene