Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Met1043Ile (p.M1043I) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Met1043Ile (p.M1043I) ( ENST00000263967.4, ENST00000643187.1 )
Source Database
ClinVar
Description
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) AND Transitional cell carcinoma of the bladder
ClinVar Allele ID
173901
ClinVar RefSeq Alternation Syntax
NM_006218.4:c.3129G>A
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/RCV000442493
Observed Origin Sample
somatic
Drugs