This alteration occurs within gene LOC126862603, SRSF1 (BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417| serine and arginine rich splicing factor 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities