Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Cys124Arg (p.C124R)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Cys124Arg (p.C124R) ( 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.370T>C (p.Cys124Arg) AND Cowden syndrome 1
- ClinVar Allele ID
- 22856
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.889T>C
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.370T>C
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-381T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008261
- ClinVar Disease
- Cowden syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9259288
Drugs