Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Gln383Ter (p.Q383*)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Gln383Ter (p.Q383*) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary diffuse gastric adenocarcinoma endometrial carcinoma blepharocheilodontic syndrome 1 Neoplasm of ovary Familial cancer of breast Malignant tumor of prostate
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions
- ClinVar Allele ID
- 152602
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-469C>T
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1147C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-673C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1137+1059C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763385
- ClinVar Disease
- Malignant tumor of prostate
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Neoplasm of ovary
- ClinVar Disease
- Endometrial carcinoma
- ClinVar Disease
- Blepharocheilodontic syndrome 1
- Observed Origin Sample
- unknown
Drugs