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rs267607036(A;G)

From SNPedia
Carrier of a Pontocerebellar hypoplasia type 2D mutation
Is agenotype
ofrs267607036
GeneSEPSECS
Chromosome4
Position25,144,799
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Pontocerebellar hypoplasia type 2D mutation
(G;G) 9 Pontocerebellar hypoplasia type 2D

Unaffected carrier in absence of a second mutation; see SEPSECS gene and Pontocerebellar hypoplasia type 2D.