Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Cys420Arg (p.C420R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000643187.1, ENST00000263967.4 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Cys420Arg (p.C420R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- NA
Drugs