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Variant (rsID / SNP)

rs143571197

AXIN2

rs143571197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXIN2. Location: chromosome 17, position 63,530,196. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AXIN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:63530196
Cytoband
17q24.1
HGVS
NM_004655.4(AXIN2):c.2239C>T (p.His747Tyr)
Allele change
Missense_H747Y

Associated conditions / phenotypes

Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome

Public references

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