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
- The EGFR exon 19 deletion mutation and the L858R mutation in exon 21 comprise approximately 90% of the somatic mutations in NSCLC patients that respond to EGFR TKI.
- Pubmed
- 24913109
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.38498181821385
- Year of publication
- 2014
Drugs