rs41298442(A;G)
From SNPedia
| Dopa-responsive dystonia (dominant) mutation |
| Is a | genotype |
| of | rs41298442 |
| Gene | GCH1 |
| Chromosome | 14 |
| Position | 54,844,099 |
| mentioned | by |
| Magnitude | 4.5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4.5 | Dopa-responsive dystonia (dominant) mutation |
| (G;G) | 5 | Dystonia (dopa-responsive) from homozygous GCH1 mutation |
Dominant mutation with variable expression and reduced penetrance. Also possible predisposing/risk factor for Parkinson's disease. See main rs-page as well as GCH1 webpage for additional links.
