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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Nonhemolytic U H (UGT1A1) nonhemolytic U.H Autosomal Recessive 2q37.1 Missense UGT1A1 689A>G Tyr230Cys Amino Acid Substitution Khan et al., 2013/2013
Nonhemolytic U H (UGT1A1) nonhemolytic U.H Autosomal Recessive 2q37.1 Missense UGT1A1 106G>A Asp36Asn Amino Acid Substitution Khan et al., 2013/2013
Nonhemolytic U H (UGT1A1) nonhemolytic U.H Autosomal Recessive 2q37.1 Duplication UGT1A1 622-625dupCAGC Ser208fs*258 Frame shift mutation & PTC Khan et al., 2013/2013
Nonhemolytic U H (UGT1A1) nonhemolytic U.H Autosomal Recessive 2q37.1 Nonsense UGT1A1 1021C >T Arg341* Premature Termination Khan et al., 2013/2013
Nonhemolytic U H (UGT1A1) nonhemolytic U.H Autosomal Recessive 2q37.1 UGT1A1 A(TA)7TAA Khan et al., 2013/2013