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rs121964975(-;TTC)

From SNPedia
Carrier of a glycine encephalopathy mutation
Is agenotype
ofrs121964975
GeneGLDC
Chromosome9
Position6,554,716
Merged fromRs386833548
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(-;TTC) 3 Carrier of a glycine encephalopathy mutation
(TCT;TCT) 0 common in clinvar

Unaffected in absence of a second mutation in the GLDC gene