Variant (rsID / SNP)

rs115283528

rs115283528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPCAM. Location: chromosome 2, position 47,607,081. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EPCAMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:47607081
Cytoband: 2p21
HGVS: NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)
Allele change: Missense_I277M

Associated conditions / phenotypes

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

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.