Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Lys183Ter (p.K183*)
(
ENST00000713839.1,
ENST00000700021.1,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700029.2,
ENST00000371953.8 )
PTEN p.Lys183Ter (p.K183*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer) AND not provided
- ClinVar Allele ID
- 187365
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-45_-43delinsT
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1066_1068delinsT
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.547_549delinsT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-09-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169831
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs