Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ser (p.G719S)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Neoplasm of the large intestine
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Neoplasm of the large intestine
- ClinVar Allele ID
- 31651
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1996G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2155G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2020G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2020G>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2155G>A
- Clinical Significance Description
- not provided
- Clinical Significance Last Update
- 2016-03-10
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000434135
- ClinVar Disease
- Neoplasm of the large intestine
- Observed Origin Sample
- somatic
Drugs