rs797045192(A;T)
From SNPedia
| Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
| Is a | genotype |
| of | rs797045192 |
| Gene | SLC52A3 |
| Chromosome | 20 |
| Position | 765,602 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
| (A;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
| (T;T) | 0 | common in clinvar |
Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.
