Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Neoplasm of brain
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm of brain
Observed Origin Sample
somatic
ClinVar Allele ID
28691
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.3140A>G
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/RCV000432543
ClinVar Disease
Neoplasm of brain
Drugs