EGFR c.1496G>A ;(p.C499Y)

Variant ID: 7-55228029-G-A

NM_005228.3(EGFR):c.1496G>A;(p.C499Y)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: EGFR: 1496G>A; Cys499Tyr
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
View BVdb publication page


Mutational landscape of radiation-associated angiosarcoma of the breast.

Oncotarget
Thibodeau, Bryan J BJ; Lavergne, Vincent V; Dekhne, Nayana N; Benitez, Pamela P; Amin, Mitual M; Ahmed, Samreen S; Nakamura, Jean L JL; Davidson, Philip R PR; Nakamura, Alice O AO; Grills, Inga S IS; Chen, Peter Y PY; Wobb, Jessica J; Wilson, George D GD
Publication Date: 2018-02-09

Variant appearance in text: EGFR: 1496G>A; Cys499Tyr
PubMed Link: 29515789
Variant Present in the following documents:
  • Main text
  • oncotarget-09-10042.pdf
  • oncotarget-09-10042-s001.pdf
View BVdb publication page


NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Oncotarget
Chang, Pi-Yueh PY; Chen, Jinn-Shiun JS; Chang, Nai-Chung NC; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Tsai, Shu-Hui SH; Wen, Ying-Hao YH; Tsai, Wen-Sy WS; Chan, Err-Cheng EC; Lu, Jang-Jih JJ
Publication Date: 2016-06-21

Variant appearance in text: EGFR: 1496G>A; C499Y
PubMed Link: 27121310
Variant Present in the following documents:
  • oncotarget-07-37566.pdf
View BVdb publication page


VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: EGFR: C499Y
PubMed Link: 27060149
Variant Present in the following documents:
  • Main text
  • gkw227.pdf
View BVdb publication page