Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Ser492Arg (p.S492R)
(
ENST00000275493.7,
ENST00000342916.7,
ENST00000344576.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Ser492Arg (p.S492R) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Neoplasm of the large intestine
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.1476C>A (p.Ser492Arg) AND Neoplasm of the large intestine
- ClinVar Allele ID
- 363220
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.1341C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.1341C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1317C>A
- ClinVar RefSeq Alternation Syntax
- NM_201284.2:c.1476C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.1476C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.675C>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.1476C>A
- ClinVar RefSeq Alternation Syntax
- NM_201282.2:c.1476C>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/RCV000423834
- ClinVar Disease
- Neoplasm of the large intestine
- Observed Origin Sample
- somatic
Drugs