Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Gln546Glu (p.Q546E)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Gln546Glu (p.Q546E) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Neoplasm of the large intestine
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Neoplasm of the large intestine
- ClinVar Allele ID
- 28693
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1636C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000437696
- ClinVar Disease
- Neoplasm of the large intestine
- Observed Origin Sample
- somatic
Drugs