rs397514658(A;G)
From SNPedia
| Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
| Is a | genotype |
| of | rs397514658 |
| Gene | SLC52A2 |
| Chromosome | 8 |
| Position | 144,360,932 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
| (A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
| (G;G) | 0 | common in clinvar |
Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.
