Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Glu24Ter (p.E24*)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Glu24Ter (p.E24*) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary diffuse gastric adenocarcinoma
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) AND Hereditary diffuse gastric adenocarcinoma
- ClinVar Allele ID
- 27279
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.70G>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-1546G>T
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.70G>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-1750G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013027
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- Observed Origin Sample
- germline
- Pubmed
- 11104024
- Pubmed
- 10477433
Drugs