rs397514588

This is a stop gained variant in the OTOGL gene.

▶

ClinVar annotation

Pathogenic★★★☆

4 submitters2 publications

Autosomal recessive nonsyndromic hearing loss 84B; OTOGL-related disorder

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…