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Variant (rsID / SNP)

rs765332758

APC

rs765332758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,177,783. 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
5:112177783
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
Allele change
Synonymous_G2164G

Associated conditions / phenotypes

APC-Associated Polyposis Disorders|Hereditary cancer-predisposing syndrome|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.