This alteration occurs within gene LOC126859690, PKHD1 (MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047| PKHD1 ciliary IPT domain containing fibrocystin/polyductin) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; Autosomal recessive polycystic kidney disease