Variant (rsID / SNP)
rs74953290
rs74953290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,102,976. Clinical significance in the table: other.
Reference-table entries
APCOther
- Clinical significance (as recorded)
- other
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112102976
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.311C>A (p.Ser104Ter)
- Allele change
- Nonsense_S104X
Associated conditions / phenotypes
Familial colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.