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Variant (rsID / SNP)

rs147863331

APC

rs147863331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,170,729. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

APCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:112170729
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
Allele change
Missense_V609I

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|Carcinoma of colon|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.