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Variant (rsID / SNP)

rs138137162

APC

rs138137162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,179,077. 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
5:112179077
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
Allele change
Missense_S2596A

Associated conditions / phenotypes

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