Annotation Detail

Information
Associated Genes
EGFR EGFR-AS1
Associated Variants
EGFR p.Cys797Ser (p.C797S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Cys797Ser (p.C797S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser) AND Non-small cell lung carcinoma
ClinVar Allele ID
363221
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2254T>A
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1588T>A
ClinVar RefSeq Alternation Syntax
NR_047551.1:n.1173A>T
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2230T>A
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2389T>A
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2389T>A
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2254T>A
Clinical Significance Description
not provided
Clinical Significance Last Update
2016-03-10
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000440892
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs