rs778641299

This variant is located in the EPCAM gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not specified; Congenital diarrhea 5 with tufting enteropathy;Lynch syndrome 8

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About EPCAM

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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