rs2135900558

This variant is located in the KIF11 gene.

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ClinVar annotation

Pathogenic★★★☆
3 submitters4 publications

not provided; Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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About KIF11

This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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