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rs104894434(C;T)

From SNPedia
(Redirected from I5000652(A;G))
Carrier of a dopa-responsive dystonia mutation
Is agenotype
ofrs104894434
GeneGCH1
Chromosome14
Position54,844,108
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 4 dystonia due to autosomal recessive GCH1 mutation
(C;T) 3 Carrier of a dopa-responsive dystonia mutation
(T;T) 0 common in clinvar

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