rs2120630653

This variant is located in the POC1B gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication
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About POC1B

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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