rs118192224(C;T)
From SNPedia
| Possible miscall; otherwise, benign familial neonatal seizure related mutation |
| Is a | genotype |
| of | rs118192224 |
| Gene | KCNQ2 |
| Chromosome | 20 |
| Position | 63,419,632 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Possible miscall; otherwise, benign familial neonatal seizure related mutation |
Likely to be a miscall in Ancestry v2 datasets, but otherwise, this genotype contains a dominant mutation considered pathogenic for benign familial neonatal seizures.
