Annotation Detail

Information
Associated Genes
PTEN
Associated Variants
PTEN p.Cys136Arg (p.C136R) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Cys136Arg (p.C136R) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
Associated Disease
Mediastinal germ cell tumor
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12
Year of publication
NA
Drugs