Variant (rsID / SNP)

rs200839945

rs200839945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 79,245,652. 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: 16:79245652
Cytoband: 16q23.2
HGVS: NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)
Allele change: Missense_E402K

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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