The gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Inborn genetic diseases