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Variant (rsID / SNP)

rs146480420

EPCAM

rs146480420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPCAM. Location: chromosome 2, position 47,601,029. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EPCAMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:47601029
Cytoband
2p21
HGVS
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
Allele change
Missense_Q89H

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Congenital diarrhea 5 with tufting enteropathy

Public references

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