A variant on Chromosome 17 in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Osteogenesis imperfecta type I