Variant (rsID / SNP)

rs148725106

rs148725106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPCAM. Location: chromosome 2, position 47,602,434. Clinical significance in the table: Likely benign.

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Reference-table entries

EPCAMLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:47602434
Cytoband: 2p21
HGVS: NM_002354.3(EPCAM):c.487C>T (p.Arg163Trp)
Allele change: Missense_R163W

Associated conditions / phenotypes

Hereditary nonpolyposis colorectal neoplasms

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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