Variant (rsID / SNP)

rs1064793736

rs1064793736 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,176,296. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Duplication
Chromosome / position: 5:112176296
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.4977_5003dup (p.Asp1659_Asn1667dup)

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.