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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
Obesity (LEP) obese Autosomal Recessive 7q32.1 Deletion LEP 1-44del42 Frame shift mutation 0/Saeed et al., 2015
Obesity (LEP) obese Autosomal Recessive 7q32.1 Missense LEP 350G>A Cys117Tyr Amino Acid Substitution 0/Saeed et al., 2015
Obesity (LEP) obese Autosomal Recessive 7q32.1 Missense LEP 313C>T Arg105Trp Amino Acid Substitution 0/Saeed et al., 2015
Obesity (LEP) obese Autosomal Recessive 7q32.1 Deletion LEP 398delG Gly133Valfs*14 Frame shift mutation & PTC 0/Saeed et al., 2015
Obesity (LEP) obese Autosomal Recessive 7q32.1 Deletion LEP 393delG 147* Frame shift mutation & PTC 0/Montague et al., 1997