EGFR c.2284-1544A>T

Variant ID: 7-55247442-A-T

NM_005228.3(EGFR):c.2284-1544A>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs6968014
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
  • fgene-10-00433.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: rs6968014
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: rs6968014
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page