Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Val834Leu (p.V834L)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Val834Leu (p.V834L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) AND Non-small cell lung carcinoma
- ClinVar Allele ID
- 54446
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2365G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2365G>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2500G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2341G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2500G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1699G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-12-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038435
- ClinVar Disease
- Non-small cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs