Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Asn356Asp (p.N356D)
(
ENST00000713839.1,
ENST00000700021.1,
ENST00000688308.1,
ENST00000700029.2,
ENST00000371953.8 )
PTEN p.Asn356Asp (p.N356D) ( ENST00000371953.8, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 151977
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.1066A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1585A>G
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.475A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-07-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000131284
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs