Variant: rs149782549

present in Gene: LOC107984406;HEPACAM present in Chromosome: 11 Position on Chromosome: 124922760 Alleles of this Variant: G/A

rs149782549 in LOC107984406;HEPACAM gene and MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION PMID 21419380 2011 Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.