Variant (rsID / SNP)
rs146048493
rs146048493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,178,276. 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
- 5:112178276
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
- Allele change
- Missense_I2329V
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal adenoma|Familial adenomatous polyposis 1|APC-Associated Polyposis Disorders|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.