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rs794728004(-;-)

From SNPedia
(Redirected from Rs794728004(G;G))

Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
Is agenotype
ofrs794728004
GeneSLC52A3
Chromosome20
Position761,110
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(-;TC) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(TC;TC) 0 common in clinvar

See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.