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Variant (rsID / SNP)

rs137854567

APC

rs137854567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,154,969. 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
5:112154969
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
Allele change
Missense_R414C

Associated conditions / phenotypes

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