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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 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 Duplication TPRN 44_54Dup Leu19Glyfs*374 Frame shift mutation & PTC 0/Rehman et al., 2010
Hearing Impairment 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 Deletion TPRN 42_52del Gly15Alafs*150 Frame shift mutation & PTC 0/Rehman et al., 2010
Hearing Impairment 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 Deletion TPRN 1244delC Pro415Argfs*67 Frame shift mutation & PTC 0/Rehman et al., 2010
Hearing Impairment 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 Nonsense TPRN 1056G>A Trp352* Premature Termination 0/Rehman et al., 2010
Hearing Impairment 79 (DFNB79, TPRN) severe to profound hearing loss Autosomal Recessive 9q34.3 Deletion TPRN 42_52del11 Gly15Alafs*150 Frame shift mutation & PTC 0/Bashir et al., 2013