Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Gln699Ter (p.Q699*)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Gln699Ter (p.Q699*) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) AND CDH1-related diffuse gastric and lobular breast cancer syndrome
- ClinVar Allele ID
- 27276
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.2095C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.130C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.547C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1912C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-25
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003328152
- ClinVar Disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Observed Origin Sample
- germline
Drugs