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GENATLAS PHENOTYPE |
last update : 24-01-2018 |
Symbol | DFNA36 |
Location | 9q21.12 |
Name | neurosensory deafness 36 |
Corresponding gene | TMC1 |
Main clinical features | progressive, non syndromic |
Genetic determination | autosomal dominant |
Function/system disorder | ear |
Type | disease |
Gene product |
Name | transmembrane, cochlear expressed, 1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| D572H or D572N
| |
Remark(s) |
Genotype/Phenotype correlations | slower progression of hearing loss associated with D572H, in comparison with that caused by D572N |