rs869312702

This is a variant in the DNM1 gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★★★☆

4 submitters4 publications

Cerebellar ataxia; Developmental and epileptic encephalopathy, 31A; Epileptic encephalopathy; Global developmental delay (DD); Hypotonia; Seizure; Stereotypic movement disorder

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About DNM1

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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