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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 37 (DFNB37, MYO6) Severe-to-profound hearing loss Autosomal Recessive 6q13 Insertion MYO6 36-37insT Frame shift mutation & PTC 0/Ahmed et al., 2003
Hearing Impairment 37 (DFNB37, MYO6) severe to profound hearing loss Autosomal Recessive 6q13 Nonsense MYO6 3496C>T Arg1166* Premature Termination 0/Ahmed et al., 2003
Hearing Impairment 37 (DFNB37, MYO6) severe to profound hearing loss Autosomal Recessive 6q13 Missense MYO6 647A>T Glu216Val Amino Acid Substitution 0/Ahmed et al., 2003