Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Glu365Lys (p.E365K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu365Lys (p.E365K) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) AND not provided
ClinVar Allele ID
406150
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.1093G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2015-06-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000484163
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs