Variant (rsID / SNP)

rs193001955

rs193001955 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,466,521. 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: 16:78466521
Cytoband: 16q23.1
HGVS: NM_016373.4(WWOX):c.928C>T (p.Arg310Cys)
Allele change: Missense_R310C

Associated conditions / phenotypes

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

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.