present in Gene: ELOVL4
present in Chromosome: 6
Position on Chromosome: 79921662
Alleles of this Variant: C/G;T
rs587777598 in
ELOVL4 gene and
Erythrokeratodermia with ataxia
PMID 24566826 2014 Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.