{{Rsnum
|rsid=41298442
|Gene=GCH1
|Chromosome=14
|position=54844099
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GCH1
}}Also known as Lys224Arg, G allele is associated with Dopa-Responsive [[Dystonia]].

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

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.{{PMID|8852666}}

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.{{PMID|12391354}}

{{omim
|id=600225
|rsnum=41298442
|variant=0013
}}

{{ClinVar
|rsid=41298442
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=55310817
|CHROM=14
|GMAF=0.0005
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000000000116110100
|GENEINFO=GCH1:2643
|GENE_NAME=GCH1
|GENE_ID=2643
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.55310817T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600225.0013
|CLNSIG=5
|CLNCUI=C1851920
|CLNDBN=Dystonia 5, Dopa-responsive type; Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
|Disease=Dystonia 5; Dystonia
|CLNACC=RCV000009865.3; RCV000009866.3
|Tags=RV;PM;S3D;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1508:C1851920:128230:98808; C2673535
|COMMON=0
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}