Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Leu112Pro (p.L112P)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Glu157Ter (p.E157*) ( ENST00000688308.1, ENST00000700029.2, ENST00000371953.8, ENST00000713839.1, ENST00000700021.1, ENST00000472832.3 )
PTEN p.Leu112Pro (p.L112P) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Glu157Ter (p.E157*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Lhermitte-Duclos disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.243257302464964
- Year of publication
- NA
Drugs