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
|