Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Asn329LysfsTer14 (p.N329Kfs*14)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000700029.2,
ENST00000713839.1,
ENST00000688308.1,
ENST00000700021.1 )
PTEN p.Asn329LysfsTer14 (p.N329Kfs*14) ( 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.987_990del (p.Asn329fs) AND not provided
- ClinVar Allele ID
- 187386
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1506_1509del
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.987_990del
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.396_399del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000212887
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs