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rs148234606(C;T)

From SNPedia
Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
Is agenotype
ofrs148234606
GeneSLC52A2
Chromosome8
Position144,360,604
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8 Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(T;T) 0 common in clinvar

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