COCH Chromosome 14
Cochlin
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What This Gene Does
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
Associated Conditions (11)
Autosomal dominant nonsyndromic hearing loss 9
Inborn genetic diseases
COCH-related disorder
Hearing loss
autosomal recessive 110
Rare genetic deafness
Prelingual sensorineural hearing impairment
Bilateral sensorineural hearing impairment
Hereditary hearing loss and deafness
Nonsyndromic genetic hearing loss
Hearing impairment
Key Variants
RS121908928
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
Health Risk
RS138805494
Conflicting classifications of pathogenicity
Health Risk
RS139503327
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
Health Risk
RS143098658
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188283330
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 9, COCH-related disorder, Autosomal dominant nonsyndromic hearing loss 9
Health Risk
RS200935305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS28400029
Conflicting classifications of pathogenicity
Health Risk
RS370525728
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372237012
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
Health Risk
RS563163157
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
Health Risk
RS573330522
Conflicting classifications of pathogenicity
COCH-related disorder, COCH-related disorder
Health Risk
RS746680829
Conflicting classifications of pathogenicity
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908928 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS138805494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139503327 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS143098658 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS188283330 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, COCH-related disorder, Autosomal dominant nonsyndromic hearing loss 9 |
| RS200935305 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS28400029 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370525728 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372237012 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS563163157 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS573330522 | Health Risk | Conflicting classifications of pathogenicity | COCH-related disorder, COCH-related disorder |
| RS746680829 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748731866 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, COCH-related disorder, Autosomal dominant nonsyndromic hearing loss 9 |
| RS753785426 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS756541797 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Hearing loss, autosomal recessive 110 |
| RS757904271 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS760397052 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773935807 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774290415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555310861 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1555311971 | Health Risk | Likely pathogenic | — |
| RS1895773215 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 110, Hearing loss |
| RS2502753670 | Health Risk | Likely pathogenic | — |
| RS756790858 | Health Risk | Likely pathogenic | Prelingual sensorineural hearing impairment, Hearing loss, autosomal recessive 110 |
| RS1213152015 | Health Risk | Pathogenic | Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
| RS121908927 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS121908930 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS121908932 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Rare genetic deafness, Hereditary hearing loss and deafness |
| RS121908934 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS1895769400 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 110, Hearing loss |
| RS2138844314 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS2138846618 | Health Risk | Pathogenic | — |
| RS2502716376 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS28938175 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss, Rare genetic deafness |
| RS777627665 | Health Risk | Pathogenic | — |
| RS878853226 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9 |
| RS121908929 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 9, Hereditary hearing loss and deafness, Autosomal dominant nonsyndromic hearing loss 9 |
| RS2138843742 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS540895576 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 110, Hearing loss |
| RS559481815 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Hearing loss, autosomal recessive 110 |