Variant (rsID / SNP)

rs5745066

rs5745066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,202,816. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLEBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:133202816
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
Allele change: Missense_E2140K

Associated conditions / phenotypes

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

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.