rs267606684(C;C)

common in clinvar

Is a	genotype
of	rs267606684
Gene	SLC52A3
Chromosome	20
Position	765,381
mentioned	by

Magnitude

0

Repute

Good

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; riboflavin treatment recommended