Annotation Detail

Information
Associated Genes
EGFR EGFR-AS1
Associated Variants
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) AND gefitinib response - Efficacy
ClinVar Allele ID
31652
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1568C>T
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2234C>T
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2369C>T
ClinVar RefSeq Alternation Syntax
NR_047551.1:n.1193G>A
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2210C>T
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2234C>T
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2369C>T
Clinical Significance Description
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001787805
Observed Origin Sample
germline
Drugs