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rs137852633(C;G)

From SNPedia
(Redirected from I5000643(C;G))
Carrier of a dopa-responsive dystonia mutation
Is agenotype
ofrs137852633
GeneGCH1
Chromosome14
Position54,845,799
mentionedby
Magnitude3
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

Likely to be unaffected in absence of another GCH1 gene mutation; see GCH1 webpage.