Variant (rsID / SNP)

rs864622629

rs864622629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,174,282. Clinical significance in the table: Likely benign.

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Reference-table entries

APCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:112174282
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.2991T>C (p.Tyr997=)
Allele change: Synonymous_Y997Y

Associated conditions / phenotypes

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.