rs76947760(T;T)
From SNPedia
| Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
| Is a | genotype |
| of | rs76947760 |
| Gene | SLC52A3 |
| Chromosome | 20 |
| Position | 763,523 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
| (T;T) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.
