Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Gly239Arg (p.G239R)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Gly239Arg (p.G239R) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- blepharocheilodontic syndrome 1 Neoplasm of ovary Familial cancer of breast Malignant tumor of prostate Hereditary diffuse gastric adenocarcinoma endometrial carcinoma
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) AND multiple conditions
- ClinVar Allele ID
- 136457
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-1105G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.715G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.715G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-04-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002483202
- 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