Variant (rsID / SNP)
rs1060503257
rs1060503257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,111,435. Clinical significance in the table: Pathogenic.
Reference-table entries
APCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 5:112111435
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.531+2dup
Associated conditions / phenotypes
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.