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rs375088539(T;T)

From SNPedia
(Redirected from I6025900(T;T))
Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
Is agenotype
ofrs375088539
GeneFBXL6, SLC52A2
Chromosome8
Position144,360,300
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;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

See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.