Variant (rsID / SNP)
rs114119067
rs114119067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,214,619. 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
- 12:133214619
- Cytoband
- 12q24.33
- HGVS
- NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
- Allele change
- Missense_V1887M
Associated conditions / phenotypes
Colorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.