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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 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 136G>A Gly46Arg Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) Mild to severe hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 264G>A Met88Ile Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 281G>A Gly94Asp Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 565C>T Arg189Cys Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 662C>T Thr221Ile Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Duplication GIPC3 685dupG Ala229Glyfs*10 Frame shift mutation & PTC 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Missense GIPC3 767G>A Gly256Asp Amino Acid Substitution 0/Rehman et al., 2011
Hearing Impairment 15/72/95(DFNB15/72/95, GIPC3) severe to profound hearing loss Autosomal Recessive 19p13.3?q31.32 Splice site GIPC3 226-1G>T Ile76Profs*34 Frame shift mutation & PTC 0/Siddiqi et al., 2014
Hearing Impairment (GIPC3) Hearing loss/Deafness 15 Autosomal Recessive 19p13.3 Substitution GIPC3 c.937T>C p.*313Gluext*98 Frameshift Zhou et al., 2020/2020
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