rs398123067(C;C)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs398123067 |
Gene | FBXL6, SLC52A2 |
Chromosome | 8 |
Position | 144,360,343 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
(A;C) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
(C;C) | 0 | common in clinvar |