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rs104894445(A;G)

From SNPedia
(Redirected from I5000644(C;T))
Carrier of a dopa-responsive dystonia mutation
Is agenotype
ofrs104894445
GeneGCH1
Chromosome14
Position54,845,843
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 4 dystonia due to autosomal recessive GCH1 mutation
(A;G) 3 Carrier of a dopa-responsive dystonia mutation
(G;G) 0 common in clinvar

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