Variant: rs587777606

present in Gene: HNRNPUL2-BSCL2;BSCL2;LRRN4CL present in Chromosome: 11 Position on Chromosome: 62691300 Alleles of this Variant: G/A

rs587777606 in HNRNPUL2-BSCL2;BSCL2;LRRN4CL gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 26282322 2015 Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

PMID 23564749 2013 A new seipin-associated neurodegenerative syndrome.