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rs386833517(T;T)

From SNPedia
Glycine encephalopathy; Non-ketotic hyperglycinemia
Is agenotype
ofrs386833517
GeneGLDC
Chromosome9
Position6,604,637
mentionedby
Magnitude8.8
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a glycine encephalopathy mutation
(T;T) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia

see associated ClinVar and OMIM entries