EGFR c.2470-1072T>C

Variant ID: 7-55258340-T-C

NM_005228.3(EGFR):c.2470-1072T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SNP interaction pattern identifier (SIPI): an intensive search for SNP-SNP interaction patterns.

Bioinformatics (Oxford, England)
Lin, Hui-Yi HY; Chen, Dung-Tsa DT; Huang, Po-Yu PY; Liu, Yung-Hsin YH; Ochoa, Augusto A; Zabaleta, Jovanny J; Mercante, Donald E DE; Fang, Zhide Z; Sellers, Thomas A TA; Pow-Sang, Julio M JM; Cheng, Chia-Ho CH; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Amin Al Olama, Ali A; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; Wiklund, Fredrik F; Gronberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Hamdy, Freddie F; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen N SN; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Pandha, Hardev H; Lu, Yong-Jie YJ; , ; Park, Jong Y JY
Publication Date: 2017-03-15

Variant appearance in text: rs13224708
PubMed Link: 28039167
Variant Present in the following documents:
  • Main text
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: rs13224708
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page