Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Arg800AlafsTer16 (p.R800Afs*16)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Arg800AlafsTer16 (p.R800Afs*16) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2398del (p.Arg800fs) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 166262
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.433del
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.850del
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.2215del
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.2398del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000592579
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs