Variant (rsID / SNP)

rs549177672

rs549177672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPCAM. Location: chromosome 2, position 47,596,707. Clinical significance in the table: Benign.

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Reference-table entries

EPCAMBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:47596707
Cytoband: 2p21
HGVS: NM_002354.3(EPCAM):c.63C>G (p.Ala21=)
Allele change: Synonymous_A21A

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.