Gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Autosomal recessive distal spinal muscular atrophy 1