rs121964974(G;T)
From SNPedia
| Carrier of a glycine encephalopathy mutation |
| Is a | genotype |
| of | rs121964974 |
| Gene | GLDC |
| Chromosome | 9 |
| Position | 6,588,417 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a glycine encephalopathy mutation |
| (T;T) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
Unaffected in absence of a second mutation in the GLDC gene
