Variant: rs1479675678

present in Gene: DOCK7 present in Chromosome: 1 Position on Chromosome: 62513588 Alleles of this Variant: G/A;C

rs1479675678 in DOCK7 gene and Dysmorphic features PMID 24814191 2014 Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

PMID 16982419 2006 The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18.