Variant (rsID / SNP)
rs397515734
rs397515734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,128,191. Clinical significance in the table: Pathogenic.
Reference-table entries
APCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112128191
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.694C>T (p.Arg232Ter)
- Allele change
- Nonsense_R232X
Associated conditions / phenotypes
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Neoplasm of stomach|Desmoid disease, hereditary|Carcinoma of colon|Hepatocellular carcinoma|Familial multiple polyposis syndrome|Familial adenomatous polyposis 1|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.