Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Glu545Gly (p.E545G) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Gly (p.E545G) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Carcinoma of colon
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) AND Carcinoma of colon
ClinVar Allele ID
28695
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.1634A>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2007-08-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000014637
ClinVar Disease
Carcinoma of colon
Observed Origin Sample
somatic
Pubmed
17673550
Pubmed
15520168
Drugs