Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Tyr341= (p.Y341=)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Tyr341= (p.Y341=) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1023T>C (p.Tyr341=) AND not specified
- ClinVar Allele ID
- 242469
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1023T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-797T>C
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1023T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-593T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000614960
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs