A variant on Chromosome 17 in gene HES7, LOC130060203 (hes family bHLH transcription factor 7| ATAC-STARR-seq lymphoblastoid silent region 8155) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Spondylocostal dysostosis 4, autosomal recessive