Variant (rsID / SNP)
rs34047482
rs34047482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,257,837. Clinical significance in the table: Benign.
Reference-table entries
POLEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:133257837
- Cytoband
- 12q24.33
- HGVS
- NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
- Allele change
- Missense_A31S
Associated conditions / phenotypes
Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.