Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Arg335Gly (p.R335G)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Arg335Gly (p.R335G) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Familial cancer of breast
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly) AND Familial cancer of breast
- ClinVar Allele ID
- 574114
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-613C>G
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-817C>G
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1003C>G
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1003C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003459675
- ClinVar Disease
- Familial cancer of breast
- Observed Origin Sample
- unknown
Drugs