Here is a genetic alteration in AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Hemolytic anemia due to adenylate kinase deficiency