ABCG2 c.532-16A>G

Variant ID: 4-89042960-T-C

NM_004827.2(ABCG2):c.532-16A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2021

Variant appearance in text: rs2231144
PubMed Link: 34007475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Analysis of ABCG2 Genetic Variation in the Polish Population and Its Inter-Population Comparison.

Genes
Słomka, Marcin M; Sobalska-Kwapis, Marta M; Korycka-Machała, Małgorzata M; Dziadek, Jarosław J; Bartosz, Grzegorz G; Strapagiel, Dominik D
Publication Date: 2020-09-29

Variant appearance in text: ABCG2: 532-16A>G; rs2231144
PubMed Link: 33003314
Variant Present in the following documents:
  • Main text
  • genes-11-01144.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: rs2231144
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: rs2231144
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs2231144
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page