Variant (rsID / SNP)

rs199979862

rs199979862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,214,646. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POLEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:133214646
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.5632C>T (p.Arg1878Cys)
Allele change: Missense_R1878C

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.