Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM p.Arg138Ter (p.R138*)
(
ENST00000405271.5,
ENST00000263735.9 )
EPCAM p.Arg138Ter (p.R138*) ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- congenital diarrhea 5 with tufting enteropathy
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) AND Congenital diarrhea 5 with tufting enteropathy
- ClinVar Allele ID
- 48740
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.412C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033250
- ClinVar Disease
- Congenital diarrhea 5 with tufting enteropathy
- Observed Origin Sample
- germline
- Pubmed
- 20034091
- Pubmed
- 23462293
Drugs