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rs375088539(C;T)

From SNPedia
(Redirected from I6025900(C;T))
Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
Is agenotype
ofrs375088539
GeneFBXL6, SLC52A2
Chromosome8
Position144,360,300
mentionedby
Magnitude3
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

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