The gene MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration