A sequence alteration has been identified in LOC100130357, LOC129995804, PHACTR1, TBC1D7-LOC100130357 (uncharacterized LOC100130357| ATAC-STARR-seq lymphoblastoid active region 24022| phosphatase and actin regulator 1| TBC1D7-LOC100130357 readthrough) on Chromosome 6. Is it disease-inducing or harmless?
Pathogenic; Developmental and epileptic encephalopathy, 70