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
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
Exon19 deletions and exon21 L858R mutations in EGFR were detected in 4 (12%) and 13 (38%) of 34 NSCLC cases, respectively.
Pubmed
18448998
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.38498181821385
Year of publication
2008
Drugs