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rs267606684(C;T)

From SNPedia

Carrier of a Brown-Vialetto-Van Laere syndrome mutation
Is agenotype
ofrs267606684
GeneSLC52A3
Chromosome20
Position765,381
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere Syndrome

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