rs797045190(C;C)
From SNPedia
Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
Is a | genotype |
of | rs797045190 |
Gene | SLC52A3 |
Chromosome | 20 |
Position | 765,726 |
mentioned | by |
Magnitude | 8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
(C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(T;T) | 0 | common in clinvar |
See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.