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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Osteogenesis Imperfecta,Type 11 (FKBP10) Bone fragility Autosomal Recessive 17q21.2 Nonsense FKBP10 1490G>A Trp497* Premature Termination 0/Umair et al., 2016
Osteogenesis Imperfecta,Type 11 (FKBP10) Bone fragility Autosomal Recessive 17q21.2 Missense FKBP10 344G>A Arg115Gln Amino Acid Substitution 0/Umair et al., 2016
Osteogenesis Imperfecta,Type 11 (FKBP10) Bone fragility Autosomal Recessive 17q21.2 Duplication FKBP10 831dupC Gly278Argfs*295 Frame shift mutation & PTC 0/Umair et al., 2016