EGFR c.2283+1241A>G

Variant ID: 7-55243754-A-G

NM_005228.3(EGFR):c.2283+1241A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs9692301
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.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: rs9692301
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.

Plos One
Zhou, Qiu-Hong QH; Zhao, Lan-Juan LJ; Wang, Ping P; Badr, Rhamee R; Xu, Xiao-Jing XJ; Bu, Feng-Xiao FX; Lappe, Joan J; Recker, Robert R; Zhou, Yu Y; Ye, An A; Zhou, Bo-Ting BT
Publication Date: 2014

Variant appearance in text: rs9692301
PubMed Link: 25396734
Variant Present in the following documents:
  • Main text
  • pone.0112358.pdf
View BVdb publication page



Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study.

International Journal Of Molecular Epidemiology And Genetics
Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML
Publication Date: 2013

Variant appearance in text: rs9692301
PubMed Link: 24319539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in the transforming growth factor beta pathway as predictors of bladder cancer risk.

Plos One
Wei, Hua H; Kamat, Ashish M AM; Aldousari, Saad S; Ye, Yuanqing Y; Huang, Maosheng M; Dinney, Colin P CP; Wu, Xifeng X
Publication Date: 2012

Variant appearance in text: rs9692301
PubMed Link: 23251617
Variant Present in the following documents:
  • Main text
  • pone.0051758.pdf
View BVdb publication page