Variant (rsID / SNP)

rs138391248

rs138391248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,237,652. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:133237652
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.2963C>T (p.Ser988Leu)
Allele change: Missense_S988L

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.