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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
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Deletion & Insertion SLC26A4 Exon1-2 Deletion Genomic deletion Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 71G>T Arg24Leu Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Nonsense SLC26A4 170C>A Ser57* Premature Termination Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 269C>T Ser90Leu Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Splice site SLC26A4 304+2T>C Met103Lysfs*4 Frame shift mutation & PTC Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 416G>T Gly139Val Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 416G>T Gly139Val Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 694G>A Val231Met Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 716T>A Val239Asp Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 1115C>T Ala372Val Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 1337A>G Gln446Arg Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Splice site SLC26A4 1341+3A>C Gly439Valfs*19 Frame shift mutation & PTC Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 1363A>T Ile455Phe Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 1667A>G Lys556Cys Amino Acid Substitution Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Insertion SLC26A4 1692_1693insA Cys565Metfs*8 Frame shift mutation & PTC Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Gross Deletion SLC26A4 11-18 exons deletion Genomic deletion Anwar et al., 2009/2009
Pendred?s Syndrome (SLC26A4) sensorineural hearing loss and goiter Autosomal Recessive 7q22.3 Missense SLC26A4 2145G>T Lys715Asn Amino Acid Substitution Anwar et al., 2009/2009