rs372064112
This variant is located in the RIPOR2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout RIPOR2
This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]
View all RIPOR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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