Variant (rsID / SNP)

rs991583405

rs991583405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,245,231. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLEConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:133245231
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.2016G>A (p.Arg672=)
Allele change: Synonymous_R672R

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.