rs375088539(T;T)
From SNPedia
Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
Is a | genotype |
of | rs375088539 |
Gene | FBXL6, SLC52A2 |
Chromosome | 8 |
Position | 144,360,300 |
mentioned | by |
Magnitude | 8 |
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 |
See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.