Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Ile300MetfsTer7 (p.I300Mfs*7)
(
ENST00000472832.3,
ENST00000700021.1,
ENST00000713839.1,
ENST00000700029.2,
ENST00000371953.8,
ENST00000688308.1 )
PTEN p.Ile300MetfsTer7 (p.I300Mfs*7) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.His93Arg (p.H93R) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Gly (p.R130G) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Ter (p.R130*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Thr131Ile (p.T131I) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Thr167Asn (p.T167N) ( ENST00000700021.1, ENST00000472832.3, ENST00000713839.1, ENST00000371953.8, ENST00000700029.2, ENST00000688308.1 )
PTEN p.Leu182Ser (p.L182S) ( ENST00000700021.1, ENST00000472832.3, ENST00000713839.1, ENST00000371953.8, ENST00000700029.2, ENST00000688308.1 )
PTEN p.Phe241Ser (p.F241S) ( ENST00000713839.1, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000371953.8, ENST00000700029.2 )
PTEN p.Asp252Gly (p.D252G) ( ENST00000688308.1, ENST00000472832.3, ENST00000700029.2, ENST00000371953.8, ENST00000700021.1, ENST00000713839.1 )
PTEN p.His93Arg (p.H93R) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Gly (p.R130G) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Ter (p.R130*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Thr131Ile (p.T131I) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Thr167Asn (p.T167N) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Leu182Ser (p.L182S) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Phe241Ser (p.F241S) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Asp252Gly (p.D252G) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Thr350AsnfsTer11 (p.T350Nfs*11)
PTEN p.Thr350AsnfsTer11 (p.T350Nfs*11) - Associated Disease
- MACROCEPHALY/AUTISM SYNDROME
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- NA
Drugs