TBC1D24

TBC1 domain family member 24

Summary

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]

Known Variants777 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1314368308	16:2,525,152	G/A	—	conflicting classifications of pathogenicity
rs1346593000	16:2,525,153	G/C	—	likely benign
rs1057521709	16:2,525,166	G/A	—	likely benign
rs1230756942	16:2,525,168	G/C	—	likely benign
rs998707315	16:2,525,174	G/T	—	likely benign
rs1057522733	16:2,525,184	G/C	—	likely benign
rs1181532315	16:2,525,189	G/T	—	likely benign
rs534611598	16:2,525,244	C/T	—	benign
rs2141848023	16:2,525,296	A/C	—	uncertain significance
rs117366765	16:2,529,209	C/G	downstream gene variant	—
rs573090614	16:2,529,364	C/T	—	—
rs59034110	16:2,545,791	T/A	—	likely benign
rs147119415	16:2,545,895	C/A	—	likely benign
rs138511243	16:2,545,934	G/A	—	likely benign
rs7405238	16:2,545,975	C/T	—	likely benign
rs891836551	16:2,546,018	T/C	—	likely benign
rs1280271387	16:2,546,035	G/T	—	uncertain significance
rs540861763	16:2,546,051	C/G	—	conflicting classifications of pathogenicity
rs560438271	16:2,546,062	G/C	—	uncertain significance
rs549380273	16:2,546,097	C/T	—	uncertain significance
rs772841341	16:2,546,104	C/T	—	uncertain significance
rs754720137	16:2,546,114	G/A	—	uncertain significance
rs13339105	16:2,546,119	T/C	—	benign
rs371415659	16:2,546,120	C/T	—	likely benign
rs373691424	16:2,546,132	C/T	—	benign
rs201377976	16:2,546,135	G/A	—	likely benign
rs199852092	16:2,546,143	C/T	—	conflicting classifications of pathogenicity
rs202124579	16:2,546,146	C/T	—	uncertain significance
rs747461532	16:2,546,147	G/A	—	uncertain significance
rs2141870575	16:2,546,150	A/G	—	uncertain significance
rs2505511536	16:2,546,151	T/C	—	likely pathogenic
rs772570554	16:2,546,162	G/C	—	uncertain significance
rs1596967306	16:2,546,165	T/C	—	uncertain significance
rs765897138	16:2,546,169	A/G	—	uncertain significance
rs77585883	16:2,546,171	T/C	—	likely benign
rs1417669588	16:2,546,173	C/G	—	uncertain significance
rs759193465	16:2,546,176	C/T	—	likely benign
rs767293945	16:2,546,177	G/A	—	uncertain significance
rs2505511653	16:2,546,181	A/G	—	uncertain significance
rs752594126	16:2,546,185	A/G	—	uncertain significance
rs931801085	16:2,546,186	G/A	—	uncertain significance
rs755981332	16:2,546,188	C/T	—	likely benign
rs2505511703	16:2,546,194	G/C	—	uncertain significance
rs555276293	16:2,546,197	C/T	—	likely benign
rs757359393	16:2,546,198	G/A	—	conflicting classifications of pathogenicity
rs1368170115	16:2,546,206	C/A	—	likely benign
rs201257588	16:2,546,207	C/T	stop gained	pathogenic
rs746087403	16:2,546,213	C/T	—	likely benign
rs2141870701	16:2,546,216	G/C	—	uncertain significance
rs1567410958	16:2,546,217	G/A	—	uncertain significance
rs2065735726	16:2,546,218	G/A	—	likely benign
rs369120050	16:2,546,225	G/A	—	uncertain significance
rs373393763	16:2,546,226	A/C	—	uncertain significance
rs2065735946	16:2,546,235	G/T	—	uncertain significance
rs768933496	16:2,546,236	C/T	—	likely benign
rs2065736000	16:2,546,237	A/G	—	uncertain significance
rs575173753	16:2,546,239	T/C	—	conflicting classifications of pathogenicity
rs1246835125	16:2,546,243	C/T	—	likely benign
rs2141870761	16:2,546,244	T/G	—	uncertain significance
rs1178639246	16:2,546,251	A/G	—	likely benign
rs770363653	16:2,546,264	G/C	—	pathogenic
rs773916549	16:2,546,265	C/T	—	pathogenic
rs537494711	16:2,546,266	G/A	—	likely benign
rs398122966	16:2,546,267	C/T	missense variant	pathogenic
rs760474458	16:2,546,268	G/A	missense variant	pathogenic
rs1057524191	16:2,546,270	C/T	stop gained	pathogenic
rs1596967502	16:2,546,279	T/C	—	uncertain significance
rs1567411053	16:2,546,280	G/A	—	pathogenic
rs753767193	16:2,546,281	G/A	—	pathogenic
rs761844771	16:2,546,292	A/T	—	uncertain significance
rs765396824	16:2,546,293	C/G	—	uncertain significance
rs758665573	16:2,546,294	G/A	—	uncertain significance
rs886051844	16:2,546,300	C/T	—	uncertain significance
rs780286465	16:2,546,301	G/A	—	uncertain significance
rs751753013	16:2,546,303	G/A	—	uncertain significance
rs755313242	16:2,546,304	G/A	—	uncertain significance
rs1250772981	16:2,546,309	G/T	—	uncertain significance
rs200058659	16:2,546,311	G/A	—	likely benign
rs2141870903	16:2,546,316	A/T	—	uncertain significance
rs202162520	16:2,546,318	C/T	—	conflicting classifications of pathogenicity
rs370100394	16:2,546,319	G/A	—	uncertain significance
rs369613814	16:2,546,326	C/G	—	uncertain significance
rs373914077	16:2,546,327	C/T	—	conflicting classifications of pathogenicity
rs200226466	16:2,546,328	G/A	—	conflicting classifications of pathogenicity
rs2505512315	16:2,546,330	G/T	—	uncertain significance
rs761822543	16:2,546,333	A/G	—	uncertain significance
rs952274725	16:2,546,336	C/T	—	uncertain significance
rs878854271	16:2,546,341	C/T	synonymous variant	likely benign
rs750421791	16:2,546,342	C/T	—	conflicting classifications of pathogenicity
rs878853232	16:2,546,343	G/T	missense variant	pathogenic
rs371245371	16:2,546,346	C/T	—	uncertain significance
rs373088306	16:2,546,347	G/A	—	likely benign
rs751738454	16:2,546,348	G/C	—	uncertain significance
rs866586869	16:2,546,352	C/G	—	uncertain significance
rs201374999	16:2,546,353	G/A	—	likely benign
rs13339237	16:2,546,356	T/C	—	benign
rs587777147	16:2,546,357	G/T	missense variant	pathogenic
rs373872223	16:2,546,359	C/A	—	uncertain significance
rs756581138	16:2,546,360	G/A	—	uncertain significance
rs778212970	16:2,546,362	C/T	—	likely benign

Showing 100 of 777 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.