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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 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Missense GJB2 598G>A Gly200Arg Amino Acid Substitution 0/Shafique et al., 2014
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Nonsense GJB2 231G>A Trp77* Premature Termination 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Nonsense GJB2 71G>A Trp24* Premature Termination 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Deletion GJB2 167delT Frame shift mutation 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Missense GJB2 95G>A Arg32His Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Deletion GJB2 358?360delGAG delGlu120 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) Hearing loss Autosomal Recessive 13q12.11 Missense GJB2 269T>C Leu90Pro Amino Acid Substitution 0/Santos et al., 2005
Hearing Impairment 1A (DFNB1A, GJB2) moderate-to severe hearing loss Autosomal Recessive 13q12.11 Deletion GJB2 35delG Gly12Valfs*1 Frame shift mutation & PTC 0/Bukhari et al.2013
Hearing Impairment 1A (DFNB1A, GJB2) moderate-to severe hearing loss Autosomal Recessive 13q12.11 Missense GJB2 104T>G Ile35Ser Amino Acid Substitution 0/Bukhari et al., 2013