rs386833517(T;T)
From SNPedia
| Glycine encephalopathy; Non-ketotic hyperglycinemia |
| Is a | genotype |
| of | rs386833517 |
| Gene | GLDC |
| Chromosome | 9 |
| Position | 6,604,637 |
| mentioned | by |
| Magnitude | 8.8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a glycine encephalopathy mutation |
| (T;T) | 8.8 | Glycine encephalopathy; Non-ketotic hyperglycinemia |
see associated ClinVar and OMIM entries
