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
|