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Variant (rsID / SNP)

rs200699154

WWOX

rs200699154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,466,632. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WWOXUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
16:78466632
Cytoband
16q23.1
HGVS
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
Allele change
Missense_P347T

Associated conditions / phenotypes

Developmental 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

Public references

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