rs587777376

This is a coding sequence variant variant in the KIZ gene.

ClinVar annotation

Pathogenic☆☆☆
3 submitters4 publications

Retinitis pigmentosa 69 (RP69)

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About KIZ

The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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