Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Asn345Lys (p.N345K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Asn345Lys (p.N345K) ( ENST00000263967.4, ENST00000643187.1 )
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Abnormal cardiovascular system morphology
ClinVar Allele ID
362929
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.1035T>A
Clinical Significance Description
Pathogenic
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001327959
Observed Origin Sample
somatic
Drugs