Variant (rsID / SNP)

rs398123121

rs398123121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,273. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112175273
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
Allele change: Nonsense_Q1328X

Associated conditions / phenotypes

Carcinoma of colon|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.