Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
ClinVar Allele ID
31650
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1354G>T
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.1996G>T
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2020G>T
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2155G>T
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2020G>T
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2155G>T
Clinical Significance Description
drug response
Clinical Significance Last Update
2004-05-20
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000018086
ClinVar Disease
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Observed Origin Sample
somatic
Pubmed
15118073
Drugs