TPMT c.495-1G>A

Variant ID: 6-18134121-C-T

NM_000367.2(TPMT):c.495-1G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics
Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE
Publication Date: 2020-01

Variant appearance in text: rs9333570
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs9333570
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs9333570
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Nomenclature for alleles of the thiopurine methyltransferase gene.

Pharmacogenetics And Genomics
Appell, Malin L ML; Berg, Jonathan J; Duley, John J; Evans, William E WE; Kennedy, Martin A MA; Lennard, Lynne L; Marinaki, Tony T; McLeod, Howard L HL; Relling, Mary V MV; Schaeffeler, Elke E; Schwab, Matthias M; Weinshilboum, Richard R; Yeoh, Allen E J AE; McDonagh, Ellen M EM; Hebert, Joan M JM; Klein, Teri E TE; Coulthard, Sally A SA
Publication Date: 2013-04

Variant appearance in text: rs9333570
PubMed Link: 23407052
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-resolution melting analysis of the TPMT gene: a study in the Polish population.

Genetic Testing And Molecular Biomarkers
Skrzypczak-Zielinska, Marzena M; Borun, Pawel P; Milanowska, Katarzyna K; Jakubowska-Burek, Ludwika L; Zakerska, Oliwia O; Dobrowolska-Zachwieja, Agnieszka A; Plawski, Andrzej A; Froster, Ursula G UG; Szalata, Marlena M; Slomski, Ryszard R
Publication Date: 2013-02

Variant appearance in text: TPMT: 495-1G>A; rs9333570
PubMed Link: 23252704
Variant Present in the following documents:
  • Main text
View BVdb publication page