EGFR c.2283+3204G>A

Variant ID: 7-55245717-G-A

NM_005228.3(EGFR):c.2283+3204G>A

This variant was identified in 3 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: rs845553
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic variants of PTPN2 are associated with lung cancer risk: a re-analysis of eight GWASs in the TRICL-ILCCO consortium.

Scientific Reports
Feng, Yun Y; Wang, Yanru Y; Liu, Hongliang H; Liu, Zhensheng Z; Mills, Coleman C; Han, Younghun Y; Hung, Rayjean J RJ; Brhane, Yonathan Y; McLaughlin, John J; Brennan, Paul P; Bickeboeller, Heike H; Rosenberger, Albert A; Houlston, Richard S RS; Caporaso, Neil E NE; Teresa Landi, Maria M; Brueske, Irene I; Risch, Angela A; Ye, Yuanqing Y; Wu, Xifeng X; Christiani, David C DC; Amos, Christopher I CI; Wei, Qingyi Q
Publication Date: 2017-04-11

Variant appearance in text: rs845553
PubMed Link: 28400551
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_850.pdf
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: rs845553
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page