OTOA Chromosome 16
Otoancorin
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What This Gene Does
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Associated Conditions (11)
Autosomal recessive nonsyndromic hearing loss 22
OTOA-related disorder
Melanoma
Rare genetic deafness
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 1A
Monogenic hearing loss
Hearing loss
autosomal recessive
Autosomal recessive nonsyndromic hearing loss 7
Sarcoma
Key Variants
RS1008686772
Conflicting classifications of pathogenicity
Health Risk
RS138141474
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22
Health Risk
RS140364490
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22
Health Risk
RS142579999
Conflicting classifications of pathogenicity
Health Risk
RS143326637
Conflicting classifications of pathogenicity
Melanoma, Melanoma
Health Risk
RS143993346
Conflicting classifications of pathogenicity
Health Risk
RS145044236
Conflicting classifications of pathogenicity
Health Risk
RS147088274
Conflicting classifications of pathogenicity
Health Risk
RS200689333
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22
Health Risk
RS200988634
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 22, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22
Health Risk
RS201545393
Conflicting classifications of pathogenicity
Health Risk
RS375767505
Conflicting classifications of pathogenicity
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008686772 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138141474 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22 |
| RS140364490 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22 |
| RS142579999 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143326637 | Health Risk | Conflicting classifications of pathogenicity | Melanoma, Melanoma |
| RS143993346 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145044236 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147088274 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200689333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22 |
| RS200988634 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22 |
| RS201545393 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375767505 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS464691 | Health Risk | Conflicting classifications of pathogenicity | OTOA-related disorder, OTOA-related disorder |
| RS464696 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22 |
| RS587777133 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS727503351 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727504599 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder, Autosomal recessive nonsyndromic hearing loss 22 |
| RS749507212 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749912295 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764182550 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767518359 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767786513 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767974412 | Health Risk | Conflicting classifications of pathogenicity | OTOA-related disorder, OTOA-related disorder |
| RS772438764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772988754 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775686301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1060499804 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 22 |
| RS1212308982 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS1349510820 | Health Risk | Likely pathogenic | — |
| RS1567396832 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS1898923522 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS1966895533 | Health Risk | Likely pathogenic | — |
| RS1966897756 | Health Risk | Likely pathogenic | — |
| RS2141716542 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS2141723087 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS2506971572 | Health Risk | Likely pathogenic | — |
| RS2507033596 | Health Risk | Likely pathogenic | — |
| RS2507058940 | Health Risk | Likely pathogenic | — |
| RS2507063979 | Health Risk | Likely pathogenic | OTOA-related disorder, OTOA-related disorder |
| RS368330662 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS745871771 | Health Risk | Likely pathogenic | — |
| RS754520650 | Health Risk | Likely pathogenic | — |
| RS764779350 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS774366025 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS886044667 | Health Risk | Likely pathogenic | — |
| RS1180279498 | Health Risk | Pathogenic | — |
| RS1211629219 | Health Risk | Pathogenic | — |
| RS1223258366 | Health Risk | Pathogenic | — |
| RS1261590134 | Health Risk | Pathogenic | — |
| RS1271983360 | Health Risk | Pathogenic | OTOA-related disorder, OTOA-related disorder |