Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Ser236Ter (p.S236*)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Ser236Ter (p.S236*) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.707C>A (p.Ser236Ter) AND not provided
- ClinVar Allele ID
- 180771
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-1113C>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.707C>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.707C>A
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-909C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-04-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000160385
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs