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Variant (rsID / SNP)

rs483352909

POLE

rs483352909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,250,250. Clinical significance in the table: Pathogenic.

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Reference-table entries

POLEPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:133250250
Cytoband
12q24.33
HGVS
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)
Allele change
Missense_L424V

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Public references

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