rs1403503253
This variant is located in the USH1C gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout USH1C
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
View all USH1C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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