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Variant (rsID / SNP)

rs141361080

WWOX

rs141361080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,149,000. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WWOXBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:78149000
Cytoband
16q23.1
HGVS
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)
Allele change
Missense_R120W

Associated conditions / phenotypes

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