rs782345472(C;T)
From SNPedia
| Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
| Is a | genotype |
| of | rs782345472 |
| Gene | FBXL6, SLC52A2 |
| Chromosome | 8 |
| Position | 144,359,997 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
| (T;T) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.
