Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM p.Cys66Tyr (p.C66Y)
(
ENST00000263735.9,
ENST00000405271.5 )
EPCAM p.Arg138= (p.R138=) ( ENST00000263735.9, ENST00000405271.5 )
EPCAM p.Arg138Ter (p.R138*) ( ENST00000405271.5, ENST00000263735.9 )
EPCAM c.426-1G>A ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.426-1G>C ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.491+1G>A ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.491+1G>T ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.492-2A>G ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.556-14A>C ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.556-14A>G ( ENST00000405271.5, ENST00000263735.9 )
EPCAM c.556-14A>T ( ENST00000263735.9, ENST00000405271.5 )
EPCAM p.Cys66Tyr (p.C66Y) ( ENST00000263735.9, ENST00000405271.5 )
EPCAM p.Arg138= (p.R138=) ( ENST00000263735.9, ENST00000405271.5 )
EPCAM p.Arg138Ter (p.R138*) ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.426-1G>A ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.426-1G>C ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.491+1G>A ( ENST00000405271.5, ENST00000263735.9 )
EPCAM c.491+1G>T ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.492-2A>G ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.556-14A>C ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.556-14A>G ( ENST00000263735.9, ENST00000405271.5 )
EPCAM c.556-14A>T ( ENST00000263735.9, ENST00000405271.5 )
EPCAM p.Gln167ProfsTer21 (p.Q167Pfs*21)
EPCAM p.Gln167ProfsTer21 (p.Q167Pfs*21) - Associated Disease
- DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.561628651232482
- Year of publication
- NA
Drugs