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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 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Nonsense CLDN14 167G>A Trp56* Premature Termination 0/Lee et al., 2012
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Missense CLDN14 242G>A Arg81His Amino Acid Substitution 0/Lee et al., 2012
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Missense CLDN14 694G>A Gly232Arg Amino Acid Substitution 0/Lee et al., 2012
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Missense CLDN14 254T>A Val85Asp Amino Acid Substitution 0/Lee et al., 2012
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Deletion CLDN14 398delT Met133Argfs*24 Frame shift mutation & PTC 0/Wilcox et al., 2001
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 Missense CLDN14 281C>T Ala94Val Amino Acid Substitution 0/Bashir et al., 2013
Hearing Impairment 29 (DFNB29, CLDN14) Prelingual hearing impairment Autosomal Recessive 21q22.13 CLDN14 259_260TC>AT Ser87Ile Amino Acid Substitution 0/Bashir et al., 2013
Hearing Impairment 29 (DFNB29, CLDN14) Profound prelingual hearing impairment Autosomal Recessive 21q22.13 Missense CLDN14 256A>G Ile86Val Amino Acid Substitution 0/Bashir et al., 2013