×

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 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Insertion/Deletion OTOF 1103_1104delinsC Gly368Alafs*2 Frame shift mutation & PTC 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Nonsense OTOF 1273C>T Arg425* Premature Termination 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Nonsense OTOF 1607G>A Trp536* Premature Termination 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Nonsense OTOF 2122C>T Arg708* Premature Termination 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Nonsense OTOF 4809C>A Lys1603* Premature Termination 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Deletion OTOF 295_2297del Glu766del 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Missense OTOF 1718T>G Leu573Arg Amino Acid Substitution 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Missense OTOF 3269C>A Ala1090Glu Amino Acid Substitution 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Missense OTOF 5197G>A Glu1733Lys Amino Acid Substitution 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Missense OTOF 5567G>A Arg1856Gln Amino Acid Substitution 0/Choi et al., 2009
Hearing Impairment 9 (DFNB9, OTOF) severe to profound hearing loss Autosomal Recessive 2p23.3 Missense OTOF 5815C>T Arg1939Trp Amino Acid Substitution 0/Choi et al., 2009