This mutation is located in gene DNM1, LOC113839516 (dynamin 1| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Developmental and epileptic encephalopathy, 31A