Variant (rsID / SNP)
rs34919187
rs34919187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,178,112. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
APCBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:112178112
- Cytoband
- 5q22.2
- HGVS
- NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
- Allele change
- Missense_A2274V
Associated conditions / phenotypes
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|APC-Associated Polyposis Disorders|Familial multiple polyposis syndrome|Carcinoma of colon|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.