Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Glu709_Thr710delinsAsp (p.E709_T710delinsD) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu747_Ala750delinsSer (p.L747_A750delinsS) ( ENST00000455089.5, ENST00000275493.7, ENST00000450046.2 )
EGFR p.Glu709_Thr710delinsAsp (p.E709_T710delinsD) ( ENST00000450046.2, ENST00000275493.7, ENST00000455089.5 )
EGFR p.Leu747_Ala750delinsSer (p.L747_A750delinsS) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Gly719Arg (p.G719R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Asp (p.G719D) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val834Leu (p.V834L) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Val834Leu (p.V834L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Arg (p.G719R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Asp (p.G719D) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val834Leu (p.V834L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val834Leu (p.V834L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.38498181821385
Year of publication
NA
Drugs