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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 49 (DFNB49, TRIC, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 Splice site TRIC, MARVELD2 IVS3-1G>A Cys395fs*396 Frame shift mutation & PTC 0/Riazuddin et al., 2006
Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 Splice site TRIC, MARVELD2 IVS4+2T>C Cys395fs*403 Frame shift mutation & PTC 0/Riazuddin et al., 2006
Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 Splice site TRIC, MARVELD2 IVS4+2delTGAG Lys445fs*461 Frame shift mutation & PTC 0/Riazuddin et al., 2006
Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) Prelingual hearing impairment Autosomal Recessive 5q12.3-q14.1 Nonsense TRIC, MARVELD2 1498C>T Arg500* Premature Termination 0/Riazuddin et al., 2006
Hearing Impairment 49 (DFNB49, TRIC, MARVELD2) Profound hearing impairment Autosomal Recessive 5q12.3-q14.1 Deletion TRIC, MARVELD2 8046 bp deletion Cys395-Gln501del 0/Nayak et al., 2015