Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg130Gln (p.R130Q)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg130Gln (p.R130Q) ( 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.389G>A (p.Arg130Gln) AND Cowden syndrome 1
- ClinVar Allele ID
- 22868
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-362G>A
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.908G>A
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.389G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008275
- ClinVar Disease
- Cowden syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9915974
- Pubmed
- 11875759
Drugs