Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
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.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 )
Associated Disease
Squamous cell carcinoma of the head and neck
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.162616373916608
Year of publication
NA
Drugs