Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Pro373Leu (p.P373L)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Pro373Leu (p.P373L) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- ovarian cancer
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) AND Ovarian cancer
- ClinVar Allele ID
- 151999
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1118C>T
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1118C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-498C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-702C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003153426
- ClinVar Disease
- Ovarian cancer
- Observed Origin Sample
- germline
Drugs