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Variant (rsID / SNP)

rs142508245

POLE

rs142508245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,219,838. 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
12:133219838
Cytoband
12q24.33
HGVS
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
Allele change
Missense_R1508H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12|Carcinoma of colon|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Public references

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