Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg130Pro (p.R130P)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg130Pro (p.R130P) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Breast neoplasm
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) AND Breast neoplasm
- ClinVar Allele ID
- 151732
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.908G>C
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.-362G>C
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.389G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000428635
- ClinVar Disease
- Breast neoplasm
- Observed Origin Sample
- somatic
Drugs