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rs199588390(C;T)

From SNPedia
Carrier of a Brown-Vialetto-Van Laere syndrome mutation
Is agenotype
ofrs199588390
GeneSLC52A3
Chromosome20
Position765,713
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 0 common in clinvar

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