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rs137852633(G;G)

From SNPedia
(Redirected from I5000643(C;C))
dystonia due to autosomal recessive GCH1 mutation
Is agenotype
ofrs137852633
GeneGCH1
Chromosome14
Position54,845,799
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a dopa-responsive dystonia mutation
(G;G) 4 dystonia due to autosomal recessive GCH1 mutation

The degree of dystonia may vary. See the SNPedia GCH1 page for discussion.