Variant: rs587777128

present in Gene: WWOX present in Chromosome: 16 Position on Chromosome: 78108454 Alleles of this Variant: C/A

rs587777128 in WWOX gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 PMID 24456803 2014 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

PMID 24369382 2014 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.