Variant (rsID / SNP)

rs138287857

rs138287857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AXIN2. Location: chromosome 17, position 63,532,528. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AXIN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:63532528
Cytoband: 17q24.1
HGVS: NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
Allele change: Missense_A684V

Associated conditions / phenotypes

Oligodontia-cancer predisposition syndrome|Colorectal cancer|Aganglionic megacolon|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.