Variant (rsID / SNP)

rs142373951

rs142373951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,250,173. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLEBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:133250173
Cytoband: 12q24.33
HGVS: NM_006231.4(POLE):c.1347G>A (p.Thr449=)
Allele change: Synonymous_T449T

Associated conditions / phenotypes

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

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.