rs2118964076
This variant is located in the TOPORS gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout TOPORS
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
View all TOPORS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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