Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
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 )
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Tyrosine kinase inhibitor response
ClinVar Allele ID
174234
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2100_2114del
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2235_2249del
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2100_2114del
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2076_2090del
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1434_1448del
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2235_2249del
Clinical Significance Description
drug response
Clinical Significance Last Update
2006-10-28
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000150617
Observed Origin Sample
somatic
Drugs