Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM c.426-1G>A
(
ENST00000263735.9,
ENST00000405271.5 )
EPCAM c.426-1G>A ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.426-1G>A AND not provided
- ClinVar Allele ID
- 27811
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.426-1G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-06-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000588760
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs