Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Ser768Ile (p.S768I)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile) AND Non-small cell lung carcinoma
- ClinVar Allele ID
- 54419
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2168_2169delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2168_2169delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1502_1503delinsTT
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1258_1259delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2303_2304delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2303_2304delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2144_2145delinsTT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-01-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038408
- ClinVar Disease
- Non-small cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs