Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Val832Met (p.V832M)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Val832Met (p.V832M) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- CDH1-related disorder
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2494G>A (p.Val832Met) AND CDH1-related disorder
- ClinVar Allele ID
- 27285
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.946G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.529G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.2494G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.2311G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-01-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003952353
- ClinVar Disease
- CDH1-related disorder
- Observed Origin Sample
- germline
Drugs