Annotation Detail

Information
Associated Genes
EGFR EGFR-AS1
Associated Variants
EGFR p.Asn771_His773dup (p.N771_H773dup) ( ENST00000450046.2, ENST00000455089.5, ENST00000275493.7 )
EGFR p.Asn771_His773dup (p.N771_H773dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup) AND Tyrosine kinase inhibitor response
ClinVar Allele ID
178198
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2311_2319dup
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2176_2184dup
ClinVar RefSeq Alternation Syntax
NR_047551.1:n.1245_1253dup
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2152_2160dup
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1510_1518dup
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2176_2184dup
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2311_2319dup
Clinical Significance Description
drug response
Clinical Significance Last Update
2012-04-20
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000154568
Observed Origin Sample
somatic
Drugs