Variant (rsID / SNP)

rs116742454

rs116742454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,219,820. 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: 12:133219820
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.4541T>C (p.Val1514Ala)
Allele change: Missense_V1514A

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.