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Variant (rsID / SNP)

rs879253783

APC

rs879253783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,043,224. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
5:112043224
Cytoband
5q22.2
HGVS
NM_001127511.3(APC):c.-191T>C
Allele change
Silent

Associated conditions / phenotypes

Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma and proximal polyposis of the stomach|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.