Variant (rsID / SNP)

rs2548861

rs2548861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,658,393. Clinical significance in the table: Benign.

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Reference-table entries

WWOXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:78658393
Cytoband: 16q23.1
HGVS: NM_016373.4(WWOX):c.1056+191744T>G
Allele change: Silent

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.