Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

WWOX

WW domain containing oxidoreductase

Chromosome
16
Cytoband
16q23.1-q23.2
Variants (rsID)
529

WWOX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q23.1-q23.2). Its official name is “WW domain containing oxidoreductase”. The reference table lists 529 variants (rsID) for this gene.

Clinically classified variants

19 reference-table entries with clinical significance.

  • rs11545029Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Developmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs117065412Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs140817689Benignsingle nucleotide variantAutosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs141361080Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28|Autosomal recessive spinocerebellar ataxia 12
  • rs144601717Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28|Autosomal recessive spinocerebellar ataxia 12
  • rs200461412Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs2548861Benignsingle nucleotide variantAutosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1
  • rs74944733Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs186745328Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12
  • rs193027041Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28
  • rs79771882Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12
  • rs368928190Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12
  • rs756762196Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28|Autosomal recessive spinocerebellar ataxia 12|Malignant tumor of esophagus|Developmental and epileptic encephalopathy, 28
  • rs184773837Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12
  • rs193001955Uncertain significancesingle nucleotide variantAutosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1
  • rs200699154Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28|Malignant tumor of esophagus|Developmental and epileptic encephalopathy, 28
  • rs200839945Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12
  • rs202006159Uncertain significancesingle nucleotide variantAutosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1
  • rs383362Not classified3_prime_UTR_variantOsteogenic Sarcoma|Lung Cancer Susceptibility 3|Cervical Cancer|Adenocarcinoma

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.