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Variant (rsID / SNP)

rs200461412

WWOX

rs200461412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 79,245,589. 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
16:79245589
Cytoband
16q23.2
HGVS
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
Allele change
Missense_R381C

Associated conditions / phenotypes

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