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 of lung (disorder)
Source Database
DisGeNET
Description
Novel EGFR mutation-specific antibodies for lung adenocarcinoma: highly specific but not sensitive detection of an E746_A750 deletion in exon 19 and an L858R mutation in exon 21 by immunohistochemistry.
Pubmed
24412618
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.2
Year of publication
2013
Drugs