Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
adenocarcinoma
Source Database
DisGeNET
Description
Pretreatment evaluation of EGFR mutations in the resected primary adenocarcinoma specimen showed an L858R mutation in exon 21.
Pubmed
24852875
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.36
Year of publication
2014
Drugs