Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 c.1565+1G>A
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 c.1565+1G>A ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary diffuse gastric adenocarcinoma Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1565+1G>A AND multiple conditions
- ClinVar Allele ID
- 133372
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1382+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.17+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1565+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001171458
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs