Variant (rsID / SNP)

rs2240308

rs2240308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXIN2. Location: chromosome 17, position 63,554,591. Clinical significance in the table: Benign.

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Reference-table entries

AXIN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:63554591
Cytoband: 17q24.1
HGVS: NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser)
Allele change: Missense_P50S

Associated conditions / phenotypes

Oligodontia-cancer predisposition syndrome|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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