rs374837449
This variant is located in the DIAPH3 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout DIAPH3
This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
View all DIAPH3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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