KEGG   VARIANT: 7172v1
Entry
7172v1                      Variant                                
Name
TPMT polymorphism for poor drug metabolism
Gene
TPMT  thiopurine S-methyltransferase [KO:K00569]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
*2 mutation A80P
ClinVar: 12721
dbSNP: rs1800462
Variation
*4 G>A at splice junction
ClinVar: 12723
dbSNP: rs1800584
Reference
PMID:24134832
  Authors
Gharani N, Keller MA, Stack CB, Hodges LM, Schmidlen TJ, Lynch DE, Gordon ES, Christman MF
  Title
The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system.
  Journal
Genome Med 5:93 (2013)
DOI:10.1186/gm499
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