Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Ser768Ile (p.S768I)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Squamous cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) AND Squamous cell lung carcinoma
- ClinVar Allele ID
- 54418
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2303G>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2303G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2144G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2168G>T
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1259C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1502G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2168G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000435248
- ClinVar Disease
- Squamous cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs