rs397514538(C;T)
From SNPedia
Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
Is a | genotype |
of | rs397514538 |
Gene | FBXL6, SLC52A2 |
Chromosome | 8 |
Position | 144,359,860 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
(C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
(T;T) | 0 | common in clinvar |
Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.