rs2518503242

This variant is located in the DRG1 gene.

ClinVar annotation

Likely Pathogenic☆☆☆
2 submitters2 publications

Tan-Almurshedi syndrome

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About DRG1

Enables several functions, including GTPase activity; identical protein binding activity; and potassium ion binding activity. Involved in positive regulation of microtubule polymerization and regulation of mitotic spindle assembly. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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