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
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) AND CDH1-related diffuse gastric and lobular breast cancer syndrome
- 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
- Pathogenic
- Clinical Significance Last Update
- 2023-08-29
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003328182
- ClinVar Disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Observed Origin Sample
- germline
Drugs