Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Ser170ValfsTer13 (p.S170Vfs*13)
(
ENST00000371953.8,
ENST00000700029.2,
ENST00000688308.1,
ENST00000472832.3,
ENST00000700021.1,
ENST00000713839.1 )
PTEN p.Ser170ValfsTer13 (p.S170Vfs*13) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Cowden syndrome 1
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.507del (p.Ser170fs) AND Cowden syndrome 1
- ClinVar Allele ID
- 22882
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.507del
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1026del
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-85del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000656709
- ClinVar Disease
- Cowden syndrome 1
- Observed Origin Sample
- unknown
- Pubmed
- 14518070
- Pubmed
- 12471211
Drugs