Variant (rsID / SNP)

rs1060504488

rs1060504488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXIN2. Location: chromosome 17, position 63,534,333. Clinical significance in the table: Likely benign.

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Reference-table entries

AXIN2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:63534333
Cytoband: 17q24.1
HGVS: NM_004655.4(AXIN2):c.1188G>A (p.Gln396=)
Allele change: Synonymous_Q396Q

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.