Variant (rsID / SNP)

rs863224281

rs863224281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,111,380. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:112111380
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.477C>T (p.Tyr159=)
Allele change: Nonsense_Y159X

Associated conditions / phenotypes

Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.