Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs115193764

POLE

rs115193764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,237,641. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POLEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:133237641
Cytoband
12q24.33
HGVS
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
Allele change
Missense_A992T

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Carcinoma of colon

Public references

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