Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Ser294Arg (p.S294R)
(
ENST00000700021.1,
ENST00000472832.3,
ENST00000713839.1,
ENST00000700029.2,
ENST00000371953.8,
ENST00000688308.1 )
PTEN p.Ser294Arg (p.S294R) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Glioma susceptibility 2 familial meningioma macrocephaly-autism syndrome Cowden syndrome 1 Malignant tumor of prostate
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND multiple conditions
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 133150
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.291T>G
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.882T>G
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1401T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002477278
- 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
Drugs