Annotation Detail

Information
Associated Genes
EGFR EGFR-AS1
Associated Variants
EGFR p.Ala767_Val769dup (p.A767_V769dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ala767_Val769dup (p.A767_V769dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) AND Tyrosine kinase inhibitor response
ClinVar Allele ID
178181
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2165_2173dup
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2300_2308dup
ClinVar RefSeq Alternation Syntax
NR_047551.1:n.1257_1265dup
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2165_2173dup
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2141_2149dup
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1499_1507dup
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2300_2308dup
Clinical Significance Description
drug response
Clinical Significance Last Update
2010-02-24
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000154275
Observed Origin Sample
somatic
Drugs