Gene entry
EPCAM
epithelial cell adhesion molecule
- Chromosome
- 2
- Cytoband
- 2p21
- Variants (rsID)
- 11
EPCAM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21). Its official name is “epithelial cell adhesion molecule”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs114241106Benignsingle nucleotide variantHereditary cancer-predisposing syndrome
- rs115283528Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Congenital diarrhea 5 with tufting enteropathy
- rs549177672Benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
- rs146480420Conflicting interpretationssingle nucleotide variantLynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Congenital diarrhea 5 with tufting enteropathy
- rs148725106Likely benignsingle nucleotide variantHereditary nonpolyposis colorectal neoplasms
- rs376155665Pathogenicsingle nucleotide variantCongenital diarrhea 5 with tufting enteropathy|Hereditary nonpolyposis colorectal neoplasms|Congenital diarrhea 5 with tufting enteropathy|Colorectal cancer, hereditary nonpolyposis, type 8
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.