TBC1D1

TBC1 domain family member 1

Summary

TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]

Known Variants125 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs144039014	4:37,903,761	C/T	—	benign
rs376073388	4:37,903,778	T/A	—	uncertain significance
rs2475217058	4:37,903,810	C/T	—	uncertain significance
rs1168642815	4:37,903,828	C/T	—	uncertain significance
rs369686577	4:37,903,849	G/C	—	uncertain significance
rs760635855	4:37,903,859	G/A	—	uncertain significance
rs4008480	4:37,903,880	C/T	—	likely benign
rs565418024	4:37,903,918	G/A	—	uncertain significance
rs145947299	4:37,903,923	A/G	—	benign
rs769048224	4:37,903,964	A/G	—	likely benign
rs746844362	4:37,903,972	G/T	—	uncertain significance
rs1159722384	4:37,903,991	G/C	—	uncertain significance
rs145529203	4:37,904,079	C/T	—	likely benign
rs1334206972	4:37,904,086	C/T	—	uncertain significance
rs35859249	4:37,904,089	C/T	missense variant	benign
rs143128138	4:37,904,118	C/T	—	likely benign
rs1399982452	4:37,904,129	C/T	—	uncertain significance
rs76932524	4:37,924,021	T/C	regulatory region variant	—
rs191135255	4:37,933,252	C/A	intron variant	—
rs10010758	4:37,938,518	T/C	intron variant	—
rs750978970	4:38,016,251	G/A	—	uncertain significance
rs746886276	4:38,016,266	A/C	—	uncertain significance
rs748870275	4:38,016,303	C/T	—	likely benign
rs377732925	4:38,016,314	A/G	—	uncertain significance
rs202141166	4:38,016,328	A/T	—	uncertain significance
rs59426552	4:38,016,350	G/C	—	likely benign
rs201858985	4:38,016,357	C/A	—	conflicting classifications of pathogenicity
rs979790719	4:38,016,359	C/T	—	likely benign
rs773983834	4:38,016,360	G/C	—	likely benign
rs537125973	4:38,016,398	G/A	—	uncertain significance
rs370249626	4:38,016,429	C/T	—	likely benign
rs769870040	4:38,016,442	C/G	—	uncertain significance
rs2476677583	4:38,016,473	G/C	—	uncertain significance
rs139404167	4:38,016,517	A/G	—	uncertain significance
rs145326826	4:38,016,525	C/T	—	likely benign
rs2476685142	4:38,016,578	G/C	—	uncertain significance
rs777459312	4:38,016,593	C/T	—	uncertain significance
rs145932557	4:38,019,979	G/A	—	likely benign
rs373742470	4:38,019,999	A/G	—	uncertain significance
rs2476764005	4:38,020,030	A/G	—	uncertain significance
rs112261209	4:38,022,219	A/G	—	likely benign
rs766074895	4:38,022,249	G/T	—	uncertain significance
rs187837863	4:38,022,268	C/T	—	likely benign
rs758994457	4:38,022,269	G/A	—	uncertain significance
rs748001421	4:38,022,308	G/C	—	uncertain significance
rs2476786308	4:38,022,311	G/A	—	uncertain significance
rs187586429	4:38,023,221	G/C	—	uncertain significance
rs763320509	4:38,023,252	G/T	—	uncertain significance
rs146950338	4:38,029,435	G/A	—	uncertain significance
rs143458673	4:38,029,454	C/T	—	uncertain significance
rs985009409	4:38,029,481	C/T	—	uncertain significance
rs760660471	4:38,037,219	C/T	—	uncertain significance
rs973268237	4:38,037,232	G/C	—	uncertain significance
rs540156102	4:38,045,987	C/T	—	uncertain significance
rs141092310	4:38,045,998	G/A	—	benign
rs1320332124	4:38,046,008	T/C	—	uncertain significance
rs762303982	4:38,046,011	G/A	—	uncertain significance
rs763692594	4:38,046,023	C/T	—	uncertain significance
rs2477355231	4:38,046,076	T/C	—	uncertain significance
rs1191686114	4:38,047,472	T/C	—	likely benign
rs776159696	4:38,051,243	C/T	—	uncertain significance
rs776092360	4:38,051,264	C/A	—	uncertain significance
rs751757894	4:38,051,274	C/A	—	likely benign
rs148173697	4:38,051,283	C/G	—	likely benign
rs200329815	4:38,051,315	T/C	—	uncertain significance
rs1289912702	4:38,051,338	C/T	—	uncertain significance
rs61752489	4:38,051,363	C/T	—	likely benign
rs577001415	4:38,051,387	G/A	—	uncertain significance
rs1036215727	4:38,051,405	A/C	—	uncertain significance
rs150930395	4:38,051,421	C/T	—	benign
rs766339856	4:38,051,428	C/T	—	uncertain significance
rs757190913	4:38,051,435	A/C	—	uncertain significance
rs140029744	4:38,051,499	A/G	—	likely benign
rs748397741	4:38,051,500	G/A	—	uncertain significance
rs188959191	4:38,053,562	T/C	—	likely benign
rs117452860	4:38,053,599	C/T	—	likely benign
rs201007789	4:38,054,826	T/C	—	likely benign
rs567103810	4:38,054,852	G/C	—	likely benign
rs2477630325	4:38,055,840	A/T	—	uncertain significance
rs140253816	4:38,055,878	C/T	—	uncertain significance
rs534201497	4:38,055,923	C/T	—	uncertain significance
rs369081896	4:38,055,934	G/A	—	likely benign
rs1307012662	4:38,091,588	C/T	—	uncertain significance
rs202172601	4:38,091,655	G/A	—	uncertain significance
rs535861113	4:38,091,747	G/T	—	likely benign
rs752611279	4:38,097,543	A/G	—	likely benign
rs780659681	4:38,097,576	C/T	—	uncertain significance
rs145804193	4:38,097,608	C/T	—	likely benign
rs765004843	4:38,097,632	G/T	—	likely benign
rs149645940	4:38,097,704	T/C	—	likely benign
rs148353711	4:38,104,645	A/G	—	likely benign
rs142187678	4:38,104,691	C/G	—	uncertain significance
rs780598959	4:38,104,717	G/C	—	likely benign
rs757295741	4:38,104,753	G/C	—	uncertain significance
rs781379506	4:38,104,761	C/G	—	uncertain significance
rs146364167	4:38,104,762	G/A	—	likely benign
rs774763747	4:38,117,381	C/A	—	uncertain significance
rs1312522146	4:38,117,388	C/T	—	uncertain significance
rs372955287	4:38,117,420	C/G	—	uncertain significance
rs556659281	4:38,117,473	G/C	—	uncertain significance

Showing 100 of 125 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.