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
|