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rs267606683(A;G)

From SNPedia
Carrier of a Brown-Vialetto-Van Laere syndrome mutation
Is agenotype
ofrs267606683
GeneSLC52A3
Chromosome20
Position765,564
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended

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