Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Pro354Gln (p.P354Q)
(
ENST00000700029.2,
ENST00000371953.8,
ENST00000688308.1,
ENST00000700021.1,
ENST00000713839.1 )
PTEN p.Pro354Gln (p.P354Q) ( ENST00000371953.8, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Glioma susceptibility 2 macrocephaly-autism syndrome Cowden syndrome 1 Malignant tumor of prostate familial meningioma
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) AND multiple conditions
- ClinVar Allele ID
- 152734
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1580C>A
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.1061C>A
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.470C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-01-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002492515
- 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