rs137973334(T;T)
From SNPedia
| Lipoyltransferase 1 deficiency |
| Is a | genotype |
| of | rs137973334 |
| Gene | MITD1, LIPT1 |
| Chromosome | 2 |
| Position | 99,162,249 |
| mentioned | by |
| Magnitude | 9 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Unaffected carrier of a Lipoyltransferase mutation (severe) |
| (T;T) | 9 | Lipoyltransferase 1 deficiency |
see discussion at rs137973334
