Variant (rsID / SNP)

rs200593940

rs200593940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,173,705. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:112173705
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
Allele change: Missense_R805Q

Associated conditions / phenotypes

Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|Neoplasm of the liver|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.