rs587777465(A;A)

common in clinvar

Is a	genotype
of	rs587777465
Gene	VPS53
Chromosome	17
Position	532,843
mentioned	by

Magnitude

0

Repute

Good

Geno	Mag	Summary
(C;C)	9	Pontocerebellar hypoplasia type 2E
(C;T)	3	Carrier of a Pontocerebellar hypoplasia type 2E mutation
(T;T)	0	common in clinvar