rs878854271
This is a synonymous variant in the TBC1D24 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24; Developmental and epileptic encephalopathy, 1 (DEE1)
View on ClinVar →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]
View all TBC1D24 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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