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Variant (rsID / SNP)

rs148275069

APC

rs148275069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,176,431. 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
5:112176431
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
Allele change
Missense_D1714N

Associated conditions / phenotypes

Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|APC-Associated Polyposis Disorders|Colorectal cancer|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.