rs559979281

This is a coding sequence variant variant in the CLASP1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
17 submitters12 publications

Roifman syndrome; not provided; Roifman syndrome;Osteodysplastic primordial dwarfism, type 1;Lowry-Wood syndrome; CLASP1-related disorder

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About CLASP1

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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