Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Leu70Pro (p.L70P)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Leu70Pro (p.L70P) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- macrocephaly-autism syndrome Malignant tumor of prostate familial meningioma Glioma susceptibility 2 Cowden syndrome 1
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 22865
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.209T>C
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-541-5489T>C
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.728T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-08-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496305
- 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