A variant on Chromosome 6 in gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Inborn genetic diseases