rs773199567
This variant is located in the OTOGL gene.
▶ClinVar annotation
Likely Benign★★★☆
3 submitters1 publicationnot provided; Autosomal recessive nonsyndromic hearing loss 84B
View on ClinVar →About OTOGL
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]
View all OTOGL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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