Variant: rs104894158 

    present in Gene: EGR2
    present in Chromosome: 10
    Position on Chromosome: 62813835
    Alleles of this Variant: A/T

rs104894158 in EGR2 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PMID 22522483 2012 Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.