Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu453del (p.E453del)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu453del (p.E453del) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Ile112Asn (p.I112N) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Cys378Tyr (p.C378Y) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Gly914Arg (p.G914R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Ile112Asn (p.I112N) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Cys378Tyr (p.C378Y) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Gly914Arg (p.G914R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Megalencephaly cutis marmorata telangiectatica congenita
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36027144187208
- Year of publication
- NA
Drugs