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Variant (rsID / SNP)

rs376155665

EPCAM

rs376155665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPCAM. Location: chromosome 2, position 47,606,078. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EPCAMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:47606078
Cytoband
2p21
HGVS
NM_002354.3(EPCAM):c.556-14A>G
Allele change
Silent

Associated conditions / phenotypes

Congenital diarrhea 5 with tufting enteropathy|Hereditary nonpolyposis colorectal neoplasms|Congenital diarrhea 5 with tufting enteropathy|Colorectal cancer, hereditary nonpolyposis, type 8

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.