Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Cys420Arg (p.C420R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Cys420Arg (p.C420R) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Neoplasm of the large intestine
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Neoplasm of the large intestine
ClinVar Allele ID
40610
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.1258T>C
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000439612
ClinVar Disease
Neoplasm of the large intestine
Observed Origin Sample
somatic
Drugs