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rs1064795599(G;T)

From SNPedia
Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
Is agenotype
ofrs1064795599
GeneFBXL6, SLC52A2
Chromosome8
Position144,359,627
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common/normal
(G;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

Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.