This alteration occurs within gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; Inborn genetic diseases