Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Non-small cell lung carcinoma
ClinVar Allele ID
48304
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.3139C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-03-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000038675
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs