rs386833550(A;G)
From SNPedia
Carrier of a glycine encephalopathy mutation |
Is a | genotype |
of | rs386833550 |
Gene | GLDC |
Chromosome | 9 |
Position | 6,554,700 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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