Variant (rsID / SNP)
rs5744934
rs5744934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLE. Location: chromosome 12, position 133,220,526. Clinical significance in the table: Benign.
Reference-table entries
POLEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:133220526
- Cytoband
- 12q24.33
- HGVS
- NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)
- Allele change
- Missense_N1396S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.