Variant (rsID / SNP)

rs8556

rs8556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXB13. Location: chromosome 17, position 46,805,590. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HOXB13Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:46805590
Cytoband: 17q21.32
HGVS: NM_006361.6(HOXB13):c.366C>A (p.Ser122Arg)
Allele change: Synonymous_S122S

Associated conditions / phenotypes

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.