Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM c.556-14A>G
(
ENST00000405271.5,
ENST00000263735.9 )
EPCAM c.556-14A>G ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- congenital diarrhea 5 with tufting enteropathy
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.556-14A>G AND Congenital diarrhea 5 with tufting enteropathy
- ClinVar Allele ID
- 167463
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.556-14A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-08-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144936
- ClinVar Disease
- Congenital diarrhea 5 with tufting enteropathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- biparental
- Observed Origin Sample
- unknown
- Pubmed
- 23462293
Drugs