Variant (rsID / SNP)

rs144601717

rs144601717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WWOX. Location: chromosome 16, position 78,148,935. 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: 16:78148935
Cytoband: 16q23.1
HGVS: NM_016373.4(WWOX):c.293C>T (p.Pro98Leu)
Allele change: Missense_P98L

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 28|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.