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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 3 (DFNB3, MYO15A) Residual hearing at low frequencies Autosomal Recessive 17p11.2 Nonsense MYO15A 3313G>T p.Glu1105X Premature Termination 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) Residual hearing at low frequencies Autosomal Recessive 17p11.2 Deletion MYO15A 3334delG G1112fs*1124 Frame shift mutation & PTC 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) Residual hearing at low frequencies Autosomal Recessive 17p11.2 Duplication MYO15A 1185dupC Glu395fs*431 Frame shift mutation 0/Bashir et al., 2012
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Splice site MYO15A 3866+1G>A Thr1253fs*1277 Frame shift mutation & PTC 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Nonsense MYO15A 4176C>A Tyr1392* Premature Termination 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 4669A>G Lys1557Glu Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 MYO15A 5117_5118GC>TT Gly1706Val Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 5189T>C Leu1730Pro Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 6052G>A Gly2018Arg Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Nonsense MYO15A 6061C>T Gln2021* Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 6614C>T Thr2205Ile Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 6731G>A Gly2244Glu Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 6796G>A Val2266Met Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 8158G>C Asp2720His Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Insertion MYO15A 8821_8822insTG Val2940fs*3034 Frame shift mutation & PTC 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Missense MYO15A 9478C>T Leu3160Phe Amino Acid Substitution 0/Nal et al., 2007
Hearing Impairment 3 (DFNB3, MYO15A) severe to profound hearing loss Autosomal Recessive 17p11.2 Nonsense MYO15A 10474C>T Gln3492* Premature Termination 0/Nal et al., 2007