Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Tyr176Cys (p.Y176C)
(
ENST00000713839.1,
ENST00000700021.1,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700029.2,
ENST00000371953.8 )
PTEN p.Tyr176Cys (p.Y176C) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 183037
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1046A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-65A>G
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.527A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-10-17
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000579637
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs