Variant (rsID / SNP)
rs371085910
rs371085910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,111,352. Clinical significance in the table: Uncertain significance.
Reference-table entries
APCUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112111352
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.449A>G (p.Lys150Arg)
- Allele change
- Missense_K150R
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Colorectal adenoma|Familial adenomatous polyposis 1|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.
