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Gene entry

TH

tyrosine hydroxylase

Chromosome
11
Cytoband
11p15.5
Variants (rsID)
15

TH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.5). Its official name is “tyrosine hydroxylase”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs11564716Benignsingle nucleotide variantAutosomal recessive DOPA responsive dystonia
  • rs6356Benignsingle nucleotide variantAutosomal recessive DOPA responsive dystonia
  • rs689Benignsingle nucleotide variantTransient Neonatal Diabetes, Dominant/Recessive|Autosomal recessive DOPA responsive dystonia|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 10
  • rs74555599Benignsingle nucleotide variantAutosomal recessive DOPA responsive dystonia
  • rs1800033Conflicting interpretationssingle nucleotide variantDystonic disorder|Inborn genetic diseases|Autosomal recessive DOPA responsive dystonia
  • rs45471299Conflicting interpretationssingle nucleotide variantAutosomal recessive DOPA responsive dystonia|Dystonic disorder|Inborn genetic diseases
  • rs121917762Pathogenicsingle nucleotide variantAutosomal recessive DOPA responsive dystonia|Dystonic disorder
  • rs121917763Pathogenicsingle nucleotide variantAutosomal recessive DOPA responsive dystonia
  • rs80338892Pathogenicsingle nucleotide variantAutosomal recessive DOPA responsive dystonia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.