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rs121964976(C;G)

From SNPedia
Carrier of a glycine encephalopathy mutation
Is agenotype
ofrs121964976
GeneGLDC
Chromosome9
Position6,589,230
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8.8 Glycine encephalopathy; Non-ketotic hyperglycinemia
(C;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

Carriers of a single T allele demonstrate no clinical manifestations of glycine encephalopathy, although offspring who inherit two mutant alleles would be expected to exhibit a range of developmental delays without appropriate medical treatment.

"Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), which is an inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme and, as a consequence, accumulation of large quantities of glycine in all body tissues including the brain." [1]

It is also of interest that lowered expression of GLDC has been related to lower rates of various cancers.[PMID 25855294],[PMID 25496516],[PMID 22225612]