Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Asp (p.G719D)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Gly719Asp (p.G719D) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) AND Non-small cell lung carcinoma
- ClinVar Allele ID
- 362954
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1997G>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2156G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2156G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2021G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2021G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000418583
- ClinVar Disease
- Non-small cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs