Variant (rsID / SNP)
rs1801155
rs1801155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,211. Clinical significance in the table: Conflicting interpretations of pathogenicity; association; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; association; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112175211
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
- Allele change
- Missense_I1307K
Associated conditions / phenotypes
Adenomatous polyposis coli, susceptibility to|Breast cancer, susceptibility to|Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to|Familial multiple polyposis syndrome|Carcinoma of colon|Colorectal cancer|Breast carcinoma|APC-Associated Polyposis Disorders|Familial colorectal cancer|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.