Variant (rsID / SNP)

rs387906229

rs387906229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,157,647. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:112157647
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.1369del (p.Ser457fs)

Associated conditions / phenotypes

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.