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Variant (rsID / SNP)

rs368928190

WWOX

rs368928190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,458,910. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WWOXPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:78458910
Cytoband
16q23.1
HGVS
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
Allele change
Nonsense_S250X

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.