Variant (rsID / SNP)

rs727504420

rs727504420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,545. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

APCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 5:112175545
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.4255del (p.Ser1419fs)

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.