Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Leu861Gln (p.L861Q)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Leu861Gln (p.L861Q) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Squamous cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) AND Squamous cell lung carcinoma
- ClinVar Allele ID
- 174254
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1781T>A
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2447T>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2582T>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2447T>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2582T>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2423T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000438538
- ClinVar Disease
- Squamous cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs