TH tyrosine hydroxylase

Information
Symbol
TH
Type
protein-coding
Description
tyrosine hydroxylase
Entrez Gene ID
7054
Genome
hg19
Position
chr11:2,185,159-2,193,035
Genome
hg38
Position
chr11:2,163,929-2,171,805
MIM
191290 OMIM
HGNC
HGNC:11782 HGNC
Ensembl
ENSG00000180176 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 120
Likely pathogenic 0 202
Benign 0 98
Likely benign 0 1,054
Conflicting classifications of pathogenicity 0 126
not provided 1 0
Uncertain significance 0 614
Ranking
ClinVar
0
0
282
1,732
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DYT14
SYNONYM DYT5b
SYNONYM TYH
MIM 191290 OMIM
HGNC HGNC:11782 HGNC
Ensembl ENSG00000180176 Ensembl
AllianceGenome HGNC:11782
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333684.9 hg38 chr11 2,163,929 2,171,805 7,877
ENST00000381178.5 hg38 chr11 2,163,929 2,171,805 7,877
ENST00000381175.5 hg38 chr11 2,163,929 2,171,805 7,877
ENST00000352909.8 hg38 chr11 2,163,929 2,171,815 7,887
ENST00000333684.9 hg19 chr11 2,185,159 2,193,035 7,877
ENST00000381175.5 hg19 chr11 2,185,159 2,193,035 7,877
ENST00000381178.5 hg19 chr11 2,185,159 2,193,035 7,877
ENST00000352909.8 hg19 chr11 2,185,159 2,193,045 7,887
Genome browser