Variant: rs587777127

present in Gene: WWOX;MAF present in Chromosome: 16 Position on Chromosome: 79211665 Alleles of this Variant: G/C;T

rs587777127 in WWOX;MAF gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 PMID 24369382 2014 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

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