TPMT thiopurine S-methyltransferase

Information
Symbol
TPMT
Type
protein-coding
Description
thiopurine S-methyltransferase
Entrez Gene ID
7172
Genome
hg19
Position
chr6:18,128,542-18,155,308
Genome
hg38
Position
chr6:18,128,311-18,155,077
MIM
187680 OMIM
HGNC
HGNC:12014 HGNC
Ensembl
ENSG00000137364 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
drug response 0 16
Likely benign; other 0 4
not provided 1 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
4
40
16
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 TPMTD
MIM 187680 OMIM
HGNC HGNC:12014 HGNC
Ensembl ENSG00000137364 Ensembl
AllianceGenome HGNC:12014
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309983.5 hg38 chr6 18,128,311 18,155,077 26,767
ENST00000309983.5 hg19 chr6 18,128,542 18,155,308 26,767
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