rs587777466(C;C)

common in clinvar

Is a	genotype
of	rs587777466
Gene	VPS53
Chromosome	17
Position	562,498
mentioned	by

Magnitude

0

Repute

Good

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