Variant (rsID / SNP)
rs121913462
rs121913462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,207. Clinical significance in the table: Pathogenic.
Reference-table entries
APCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112175207
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)
- Allele change
- Nonsense_E1306X
Associated conditions / phenotypes
Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.