Variant (rsID / SNP)
rs1060503323
rs1060503323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,116,479. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
APCPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112116479
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.532-8G>A
- Allele change
- Silent
Associated conditions / phenotypes
Carcinoma of colon|Hereditary cancer-predisposing syndrome|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.