Variant (rsID / SNP)

rs397515733

rs397515733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,174,453. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:112174453
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.3162del (p.His1054fs)

Associated conditions / phenotypes

Familial multiple polyposis syndrome

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.