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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 86 (DFNB86, TBC1D24) Profound hearing impairment Autosomal Recessive 16p13.3 Missense TBC1D24 208G>T Asp70Tyr Amino Acid Substitution 0/Rehman et al., 2014
Hearing Impairment 86 (DFNB86, TBC1D24) Profound hearing impairment Autosomal Recessive 16p13.3 Missense TBC1D24 878G>C Arg293Pro Amino Acid Substitution 0/Rehman et al., 2014