Variant (rsID / SNP)
rs1801166
rs1801166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,240. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
APCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112175240
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
- Allele change
- Missense_E1317Q
Associated conditions / phenotypes
Familial adenomatous polyposis 1|APC-Associated Polyposis Disorders|Hereditary cancer-predisposing syndrome|Carcinoma of colon|Colorectal cancer|Familial adenomatous polyposis 1|Familial adenomatous polyposis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.