Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Gln298Glu (p.Q298E)
(
ENST00000688308.1,
ENST00000371953.8,
ENST00000700029.2,
ENST00000713839.1,
ENST00000700021.1,
ENST00000472832.3 )
PTEN p.Gln298Glu (p.Q298E) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Familial ovarian cancer
- Source Database
- ClinVar
- Description
- NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Familial ovarian cancer
- ClinVar Allele ID
- 133152
- ClinVar RefSeq Alternation Syntax
- NM_001304718.2:c.301C>G
- ClinVar RefSeq Alternation Syntax
- NM_000314.8:c.892C>G
- ClinVar RefSeq Alternation Syntax
- NM_001304717.5:c.1411C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001354793
- ClinVar Disease
- Familial ovarian cancer
- Observed Origin Sample
- unknown
Drugs