Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 c.1137+2T>C
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 c.1137+2T>C ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1137+2T>C AND CDH1-related diffuse gastric and lobular breast cancer syndrome
- ClinVar Allele ID
- 184374
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-479+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-683+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1137+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1137+2T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-23
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003328258
- ClinVar Disease
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Observed Origin Sample
- germline
Drugs