Variant: rs387907055

present in Gene: HEPACAM;LOC107984406 present in Chromosome: 11 Position on Chromosome: 124924881 Alleles of this Variant: G/A

rs387907055 in HEPACAM;LOC107984406 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.