Variant: rs104894434 

    present in Gene: GCH1
    present in Chromosome: 14
    Position on Chromosome: 54844108
    Alleles of this Variant: A/G

rs104894434 in GCH1 gene and Hyperphenylalaninemia, BH4-Deficient, B PMID 7501255 1995 GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

PMID 9667588 1998 Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.