Variant (rsID / SNP)

rs2229995

rs2229995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,178,795. Clinical significance in the table: Benign.

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Reference-table entries

APCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:112178795
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
Allele change: Missense_G2502S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial multiple polyposis syndrome|APC-Associated Polyposis Disorders|Carcinoma of colon|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.