Variant (rsID / SNP)

rs2229992

rs2229992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,162,854. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112162854
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)
Allele change: Synonymous_Y486Y

Associated conditions / phenotypes

Familial adenomatous polyposis 1|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.