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
EGFR mutations were detected in 3 adenocarcinomas; 2 tumors had the L858R substitution and 1 an exon 19 deletion.
Pubmed
21917678
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.36
Year of publication
2011
Drugs