Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Ala634Val (p.A634V)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Ala634Val (p.A634V) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary diffuse gastric adenocarcinoma
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) AND Hereditary diffuse gastric adenocarcinoma
- ClinVar Allele ID
- 27283
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1718C>T
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.353C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-65C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-12-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013031
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12588804
Drugs