{{Rsnum
|rsid=104894435
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GCH1
|position=54902341
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GCH1
}}{{omim
|id=600225
|rsnum=104894435
|variant=0012
}}{{ClinVar
|rsid=104894435
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=55369059
|CHROM=14
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=GCH1:2643
|GENE_NAME=GCH1
|GENE_ID=2643
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.55369059C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000009864.1
|CLNDBN=Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
|CLNDSDB=MedGen
|CLNDSDBID=C2673535
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600225.0012
|Disease=Dystonia
}}