Variant (rsID / SNP)

rs864622228

rs864622228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,177,117. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 5:112177117
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)

Associated conditions / phenotypes

Desmoid disease, hereditary|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.