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Variant (rsID / SNP)

rs193027041

WWOX

rs193027041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,149,048. 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
16:78149048
Cytoband
16q23.1
HGVS
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
Allele change
Missense_I136V

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28

Public references

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