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Variant (rsID / SNP)

rs1057524549

POLE

rs1057524549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,202,826. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:133202826
Cytoband
12q24.33
HGVS
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
Allele change
Synonymous_G2136G

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome

Public references

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