Variant (rsID / SNP)
rs137854568
rs137854568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,151,261. Clinical significance in the table: Pathogenic.
Reference-table entries
APCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112151261
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.904C>T (p.Arg302Ter)
- Allele change
- Nonsense_R302X
Associated conditions / phenotypes
Familial adenomatous polyposis 1|Gardner syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to|Familial multiple polyposis 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.