{{Rsnum
|rsid=80338892
|Gene=TH
|Chromosome=11
|position=2167905
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TH
}}{{omim
|id=191290
|rsnum=80338892
|variant=0003
}}{{ClinVar
|rsid=80338892
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=2189135
|CHROM=11
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000016110100
|GENEINFO=TH:7054
|GENE_NAME=TH
|GENE_ID=7054
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.2189135C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1437; 191290.0003; 191290.0012
|CLNSIG=5
|CLNCUI=C1854299; C1854299
|CLNDBN=Segawa syndrome, autosomal recessive
|Disease=Segawa syndrome
|CLNACC=RCV000013120.23
|Tags=RV;PM;PMC;S3D;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1437:C1854299:605407:101150
|COMMON=0
}}{{PMID Auto
|PMID=9703425
|Title=A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
}}

{{PMID Auto
|PMID=9732974
|Title=Biochemical hallmarks of tyrosine hydroxylase deficiency.
}}

{{PMID Auto
|PMID=10407773
|Title=A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
}}

{{PMID Auto
|PMID=12442699
|Title=Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
}}