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rs587777465(C;C)

From SNPedia
Pontocerebellar hypoplasia type 2E
Is agenotype
ofrs587777465
GeneVPS53
Chromosome17
Position532,843
mentionedby
Magnitude9
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 9 Pontocerebellar hypoplasia type 2E
(C;T) 3 Carrier of a Pontocerebellar hypoplasia type 2E mutation
(T;T) 0 common in clinvar

see Pontocerebellar hypoplasia type 2E and VPS53 gene