Variant (rsID / SNP)
rs145007501
rs145007501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXIN2. Location: chromosome 17, position 63,530,163. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AXIN2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:63530163
- Cytoband
- 17q24.1
- HGVS
- NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
- Allele change
- Missense_A758T
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Oligodontia-cancer predisposition syndrome|Oligodontia|Colorectal cancer|Colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
