Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Thr379= (p.T379=)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Thr379= (p.T379=) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1137G>A (p.Thr379=) AND Familial cancer of breast
- ClinVar Allele ID
- 166264
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-479G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1137G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1137G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002467442
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- germline
Drugs