Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Asp761Tyr (p.D761Y) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Asp761Tyr (p.D761Y) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) AND Non-small cell lung carcinoma
ClinVar Allele ID
54411
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2146G>T
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2281G>T
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2281G>T
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2122G>T
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1480G>T
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2146G>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2015-07-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000435465
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs