Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Leu858Arg (p.L858R)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Lung carcinoma
- ClinVar Allele ID
- 31648
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2438T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1772T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2573T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2414T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2438T>G
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2573T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000987885
- ClinVar Disease
- Lung carcinoma
- Observed Origin Sample
- unknown
Drugs