Variant (rsID / SNP)

rs201629780

rs201629780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,174,540. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

APCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:112174540
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
Allele change: Missense_D1083E

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|APC-Associated Polyposis Disorders|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.