×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 716T>A Val239Asp Amino Acid Substitution 0/Park et al., 2003
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Nonsense SLC26A4 170C>A Ser57* Premature Termination 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Genomic Deletion SLC26A4 -23177_c.164+1027del24368ins7 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Prelingual hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 71G>T Arg24Leu Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Prelingual hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 269C>T Ser90Leu Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Splice site SLC26A4 304+2T>C Met103Lysfs*4 Frame shift mutation & PTC 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Prelingual hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 416G>T Gly139Val Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 694G>A Val231Met Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 1115C>T Ala372Val Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 1337A>G Gln446Arg Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Splice site SLC26A4 1341+3A>C Gly439Valfs*19 Frame shift mutation & PTC 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 1363A>T Ile455Phe Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 1667A>G Tyr556Cys Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Insertion SLC26A4 1692_1693insA Cys565Metfs*8 Frame shift mutation & PTC 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Deletion SLC26A4 1264-477_2090-4927del11202 Genomic deletion 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Missense SLC26A4 2145G>T Lys715Asn Amino Acid Substitution 0/Anwar et al., 2009
Hearing Impairment 4 (DFNB4, SLC26A4) Profound hearing impairment Autosomal Recessive 7q31 Deletion SLC26A4 1863delT Frame shift mutation & PTC 0/Park et al., 2003