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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
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Missense TMC1 830A>G Tyr277Cys Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Missense TMC1 1114G>A Val372Met Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Missense TMC1 1334G>A Arg445His Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Missense TMC1 2004T>G Ser668Arg Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q21.13 Missense TMC1 2035G>A Glu679Lys Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Splice site TMC1 IVS511G>T IVS5 Frame shift mutation 0/Kitajiri et al., 2007
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Missense TMC1 1541C>T Pro514Leu Amino Acid Substitution 0/Kitajiri et al., 2007
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Missense TMC1 1543T>C Cys515Arg Amino Acid Substitution 0/Kitajiri et al., 2007
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Splice site TMC1 536 -8T>A Exon 11 skipped Frame shift mutation 0/Santos et al., 2005
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Missense TMC1 1788C>A Ser596Arg Amino Acid Substitution 0/Imtiaz et al., 2016
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Missense TMC1 596A>T Asn199Ile Amino Acid Substitution 0/Imtiaz et al., 2016
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Splice site TMC1 1404 +1G>T Frame shift mutation 0/Imtiaz et al., 2016
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Nonsense TMC1 100C>T Arg34* Premature Termination 0/Imtiaz et al., 2016
Hearing Impairment 7/11 (DFNB7/11, TMC1) severe to profound hearing loss Autosomal Recessive 9q34.3 Missense TMC1 1166G>A Arg389Gln Amino Acid Substitution 0/Hilgert et al., 2008