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Variant (rsID / SNP)

rs79771882

WWOX

rs79771882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,466,478. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WWOXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:78466478
Cytoband
16q23.1
HGVS
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
Allele change
Synonymous_R295R

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12

Public references

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