{{Rsnum
|rsid=104894438
|Chromosome=14
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GCH1
|position=54845792
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GCH1
}}{{omim
|id=600225
|rsnum=104894438
|variant=0004
}}{{ClinVar
|rsid=104894438
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=55312510
|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.55312510C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600225.0004
|CLNSIG=5
|CLNCUI=C1851920
|CLNDBN=Dystonia 5, Dopa-responsive type
|Disease=Dystonia 5
|CLNACC=RCV000009856.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1508:C1851920:128230:98808
}}