rs606231128(-;TGCC)
From SNPedia
| Carrier of a mutation for congenital myasthenic syndrome |
| Is a | genotype |
| of | rs606231128 |
| Gene | DOK7 |
| Chromosome | 4 |
| Position | 3,493,113 |
| Merged from | Rs764365793 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;TGCC) | 3 | Carrier of a mutation for congenital myasthenic syndrome |
| (TGCC;TGCC) | 5.5 | Congenital myasthenic syndrome, type 10 |
Unaffected in absence of another pathogenic mutation in the DOK7 gene; see rs606231128
