rs149070244(C;G)
From SNPedia
| Carrier of a glycine encephalopathy mutation |
| Is a | genotype |
| of | rs149070244 |
| Gene | GLDC |
| Chromosome | 9 |
| Position | 6,540,050 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a glycine encephalopathy mutation |
| (G;G) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
Unaffected in absence of a second mutation in the GLDC gene
