rs398123068(G;G)
From SNPedia
Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
Is a | genotype |
of | rs398123068 |
Gene | FBXL6, SLC52A2 |
Chromosome | 8 |
Position | 144,360,406 |
mentioned | by |
Magnitude | 8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
(G;G) | 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.