Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Gly571Ser (p.G571S)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Gly571Ser (p.G571S) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Familial cancer of breast Hereditary diffuse gastric adenocarcinoma
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) AND multiple conditions
- ClinVar Allele ID
- 184420
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-254-2576G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1528G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1711G>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/RCV001171459
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs