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rs41298442(A;A)
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common in clinvar
Is a
genotype
of
rs41298442
Gene
GCH1
Chromosome
14
Position
54,844,099
mentioned
by
Magnitude
0
Repute
Good
Geno
Mag
Summary
(A;A)
0
common in clinvar
(A;G)
4.5
Dopa-responsive dystonia (dominant) mutation
(G;G)
5
Dystonia (dopa-responsive) from homozygous GCH1 mutation
Category
:
Is a genotype
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