Located on Chromosome 9, this mutation impacts LOC126860775, PRDM12 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:133541982-133543181| PR/SET domain 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome