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, stage IV
- Source Database
- DisGeNET
- Description
- One thousand eight hundred and eighty-two patients with stage IV lung adenocarcinomas were identified: 46 patients had EGFR exon20ins (2%), and 258 patients had an EGFR exon 19 deletion (exon19del)/L858R point mutation (14%).
- Pubmed
- 26096453
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2015
Drugs