Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Tyr68IlefsTer15 (p.Y68Ifs*15)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Tyr68IlefsTer15 (p.Y68Ifs*15) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.202del (p.Tyr68fs) AND not provided
- ClinVar Allele ID
- 184330
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-1618del
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-1414del
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.202del
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.202del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-03-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000479654
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs