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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
Nail Dysplasia, Isolated Type 3 (leukonychia) Nail Whitening Autosomal Recessive 3p22.2 Deletion PLCD1 1792-10delTGTAGTGGCC Frame shift mutation & PTC 2011/Kiuru et al., 2011
Nail Dysplasia, Isolated Type 3 (leukonychia) Nail Whitening Autosomal Recessive 3p22.2 Nonsense PLCD1 1309C>T Arg437* Premature Termination 2011/Kiuru et al., 2011
Nail Dysplasia, Isolated Type 3 (leukonychia) Nail Whitening Autosomal Dominant 3p22.2 Missense PLCD1 1720C>T Ala574Thr Amino Acid Substitution 2011/Kiuru et al., 2011
Nail Dysplasia, Isolated Type 3 (leukonychia) Nail Whitening Autosomal Dominant 3p22.2 Missense PLCD1 625T>C Cys209Arg Amino Acid Substitution 2011/Kiuru et al., 2011
Nail Dysplasia, Isolated Type 3 (leukonychia) Nail Whitening Autosomal Recessive 3p22.2 Duplication PLCD1 2220-2223dupAGAG Ser740Argfs*19 Frame shift mutation & PTC 2012/Mir et al., 2012