ABCC4 c.1263+2596C>T

Variant ID: 13-95844494-G-A

NM_005845.3(ABCC4):c.1263+2596C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: rs17268122
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs17268122
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.

Clinical Pharmacology And Therapeutics
Tamm, R R; Mägi, R R; Tremmel, R R; Winter, S S; Mihailov, E E; Smid, A A; Möricke, A A; Klein, K K; Schrappe, M M; Stanulla, M M; Houlston, R R; Weinshilboum, R R; Mlinarič Raščan, Irena I; Metspalu, A A; Milani, L L; Schwab, M M; Schaeffeler, E E
Publication Date: 2017-05

Variant appearance in text: rs17268122
PubMed Link: 27770449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thiopurine pharmacogenomics: association of SNPs with clinical response and functional validation of candidate genes.

Pharmacogenomics
Matimba, Alice A; Li, Fang F; Livshits, Alina A; Cartwright, Cher S CS; Scully, Stephen S; Fridley, Brooke L BL; Jenkins, Gregory G; Batzler, Anthony A; Wang, Liewei L; Weinshilboum, Richard R; Lennard, Lynne L
Publication Date: 2014-03

Variant appearance in text: rs17268122
PubMed Link: 24624911
Variant Present in the following documents:
  • Main text
View BVdb publication page