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Variant (rsID / SNP)

rs201738371

POLE

rs201738371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,226,360. 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
12:133226360
Cytoband
12q24.33
HGVS
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
Allele change
Missense_R1233Q

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.