rs56144125(C;G)
From SNPedia
| Carrier of a CLN2 disease mutation |
| Is a | genotype |
| of | rs56144125 |
| Gene | TPP1 |
| Chromosome | 11 |
| Position | 6,617,154 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a CLN2 disease mutation |
| (G;G) | 8.8 | CLN2 disease (predicted) |
Unaffected in absence of a second mutation in the TPP1/CLN2 gene.
