Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg308Cys (p.R308C)
(
ENST00000371953.8,
ENST00000688308.1,
ENST00000700029.2,
ENST00000713839.1,
ENST00000700021.1,
ENST00000472832.3 )
PTEN p.Arg308Cys (p.R308C) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Cowden syndrome 1 familial meningioma macrocephaly-autism syndrome Glioma susceptibility 2 Malignant tumor of prostate
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions
- ClinVar Allele ID
- 408005
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1441C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.331C>T
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.922C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002475934
- ClinVar Disease
- Cowden syndrome 1
- ClinVar Disease
- Malignant tumor of prostate
- ClinVar Disease
- Familial meningioma
- ClinVar Disease
- Glioma susceptibility 2
- ClinVar Disease
- Macrocephaly-autism syndrome
- Observed Origin Sample
- unknown
Drugs