rs767293945

This variant is located in the TBC1D24 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Autosomal dominant nonsyndromic hearing loss 65;Caused by mutation in the TBC1 domain family, member 24;Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 16; Inborn genetic diseases

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About TBC1D24

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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