Gene LOC126862482, POLR2A (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785| RNA polymerase II subunit A), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities