A variant on Chromosome 12 in gene EIF2B1, LOC126861664 (eukaryotic translation initiation factor 2B subunit alpha| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Vanishing white matter disease