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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
Hypercholesterolemia familial (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Insertion LDLR c.2416_ 2417InsG p.Val806Glyfs*11 Frame shift and PTC 0/Ajmal et al., 2010
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Insertion LDLR c.2416_ 2417InsG p.Val806Glyfs*11 Frame shift and PTC 0/Ajmal et al., 2010
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Del-Insertion LDLR c.1019_1020delinsTG Cys340Leu Frame shift and PTC 0/Ahmed et al., 2013
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 G545E LDLR 1634G>A Gly545Glu Amino acid substitution 0/Ahmed et al., 2013
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Missense LDLR 1916T>G Val639Gly Amino acid substitution 0/Ahmed et al., 2012
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Missense LDLR 1211C>T Thr404Ile Amino acid substitution 0/Ahmed et al., 2012
Familial Hypercholesterolemia (LDLR) Elevated levels of blood lipids Autosomal Dominant 19p13.2 Missense LDLR 1214 A>C Asn405Thr Amino acid substitution 0/Ahmed et al., 2012