Variant (rsID / SNP)

rs751448342

rs751448342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,254,158. Clinical significance in the table: Likely benign.

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Reference-table entries

POLELikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:133254158
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.720+6T>C
Allele change: Silent

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 12

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.