Variant (rsID / SNP)
rs138207610
rs138207610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,253,197. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POLEConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:133253197
- Cytoband
- 12q24.33
- HGVS
- NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
- Allele change
- Missense_P282S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Colorectal cancer|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Familial colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.