Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138933660

APC

rs138933660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,174,941. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

APCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:112174941
Cytoband
5q22.2
HGVS
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
Allele change
Missense_N1217T

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.