Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM c.491+1G>A
(
ENST00000263735.9,
ENST00000405271.5 )
EPCAM c.491+1G>A ( ENST00000405271.5, ENST00000263735.9 ) - Associated Disease
- congenital diarrhea 5 with tufting enteropathy
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.491+1G>A AND Congenital diarrhea 5 with tufting enteropathy
- ClinVar Allele ID
- 27810
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.491+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013609
- ClinVar Disease
- Congenital diarrhea 5 with tufting enteropathy
- Observed Origin Sample
- germline
- Pubmed
- 18572020
- Pubmed
- 23462293
Drugs