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
breast adenocarcinoma
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Breast adenocarcinoma
ClinVar Allele ID
28691
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.3140A>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-06-24
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000014622
ClinVar Disease
Breast adenocarcinoma
Observed Origin Sample
somatic
Pubmed
22658544
Pubmed
17673550
Pubmed
15608678
Pubmed
26266975
Pubmed
26266985
Pubmed
23100325
Pubmed
34496175
Pubmed
22729222
Pubmed
15016963
Pubmed
15520168
Drugs