rs115559383

This variant is located in the PCDH15 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

not specified; PCDH15-related disorder; not provided

About PCDH15

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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