TBC1D32

TBC1 domain family member 32

Summary

This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants191 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs141535369	6:121,401,942	C/T	—	likely benign
rs1775563391	6:121,401,966	C/T	—	uncertain significance
rs748798523	6:121,401,967	G/A	—	likely pathogenic
rs770444598	6:121,401,978	T/C	—	uncertain significance
rs2128164851	6:121,401,980	C/T	—	likely benign
rs56300302	6:121,401,996	T/G	—	benign
rs1775569164	6:121,402,014	C/G	—	uncertain significance
rs200000443	6:121,402,024	G/A	—	likely benign
rs1403435593	6:121,412,039	A/G	—	uncertain significance
rs1164567807	6:121,412,077	G/C	—	uncertain significance
rs552597781	6:121,412,078	A/C	—	likely benign
rs186680563	6:121,412,087	T/C	—	uncertain significance
rs118077502	6:121,412,114	A/G	—	benign
rs757868336	6:121,412,126	T/C	—	uncertain significance
rs746970154	6:121,412,143	A/G	—	likely benign
rs777675910	6:121,427,188	G/A	—	uncertain significance
rs202106970	6:121,427,210	C/T	—	uncertain significance
rs1778655016	6:121,427,250	G/T	—	likely benign
rs766009570	6:121,427,262	A/G	—	likely benign
rs56356586	6:121,427,283	T/C	—	benign
rs115846020	6:121,427,301	A/C	—	benign
rs182057696	6:121,433,664	C/G	—	uncertain significance
rs1254519873	6:121,433,722	A/G	—	likely benign
rs777791020	6:121,433,774	G/A	—	likely benign
rs375947439	6:121,433,785	C/T	—	likely benign
rs1447911860	6:121,433,786	A/G	—	likely benign
rs199671235	6:121,433,793	C/G	—	conflicting classifications of pathogenicity
rs780229548	6:121,434,246	A/G	—	uncertain significance
rs773171737	6:121,434,270	C/T	—	pathogenic
rs149431059	6:121,434,278	A/G	—	benign
rs369614039	6:121,434,289	C/A	—	likely benign
rs778816455	6:121,434,299	T/C	—	likely benign
rs373991419	6:121,434,304	G/A	—	uncertain significance
rs1197984247	6:121,434,313	A/C	—	uncertain significance
rs75699042	6:121,436,298	G/A	—	benign
rs540841033	6:121,436,309	A/T	—	benign
rs774253203	6:121,436,345	T/C	—	uncertain significance
rs368304410	6:121,447,505	C/T	—	likely benign
rs759423143	6:121,447,529	T/G	—	uncertain significance
rs182549460	6:121,447,551	A/G	—	uncertain significance
rs1011686211	6:121,447,556	G/C	—	uncertain significance
rs575043241	6:121,452,816	A/T	—	uncertain significance
rs550998385	6:121,452,832	T/C	—	uncertain significance
rs369584864	6:121,452,873	T/C	—	likely benign
rs150710532	6:121,452,897	G/A	—	benign
rs760644612	6:121,481,178	T/C	—	likely benign
rs1785414360	6:121,481,185	T/C	—	uncertain significance
rs780298524	6:121,481,194	T/C	—	uncertain significance
rs751628250	6:121,481,195	A/T	—	uncertain significance
rs2534430545	6:121,481,230	C/A	—	uncertain significance
rs200717925	6:121,482,095	T/A	—	uncertain significance
rs745551546	6:121,482,099	C/T	—	uncertain significance
rs75788605	6:121,482,109	C/T	—	benign
rs112983358	6:121,482,110	G/A	—	benign
rs776659632	6:121,482,122	C/T	—	uncertain significance
rs376860064	6:121,482,123	G/A	—	uncertain significance
rs775944843	6:121,482,187	A/T	—	uncertain significance
rs1045968889	6:121,482,201	C/T	—	uncertain significance
rs148469428	6:121,490,362	C/A	intron variant	—
rs1434804006	6:121,526,246	C/A	—	likely pathogenic
rs369794331	6:121,526,311	T/C	—	likely pathogenic
rs2535058480	6:121,526,317	A/T	—	likely benign
rs565790502	6:121,544,398	A/G	—	uncertain significance
rs529189059	6:121,544,404	C/T	—	uncertain significance
rs754841752	6:121,544,405	G/A	—	uncertain significance
rs2535320992	6:121,544,430	A/G	—	likely benign
rs201397946	6:121,544,432	G/T	—	likely benign
rs187705659	6:121,544,434	T/A	—	uncertain significance
rs770474659	6:121,560,240	A/T	—	uncertain significance
rs756521076	6:121,560,310	T/G	—	uncertain significance
rs116797228	6:121,562,595	A/C	—	benign
rs779375864	6:121,562,601	A/T	—	likely benign
rs200421884	6:121,562,631	C/T	—	uncertain significance
rs900326039	6:121,562,634	C/T	—	uncertain significance
rs191814118	6:121,562,641	C/T	—	likely benign
rs200603439	6:121,562,656	G/A	—	pathogenic
rs779553602	6:121,562,717	A/T	—	benign
rs776711519	6:121,563,370	T/C	—	uncertain significance
rs1179008562	6:121,563,381	G/A	—	uncertain significance
rs114838725	6:121,563,434	G/T	—	benign
rs1229307946	6:121,563,439	C/T	—	uncertain significance
rs369149231	6:121,563,443	A/G	—	likely benign
rs200162387	6:121,563,453	A/G	—	uncertain significance
rs1340747127	6:121,563,494	G/A	—	likely benign
rs749820436	6:121,576,464	T/C	—	likely benign
rs753329266	6:121,576,510	T/A	—	uncertain significance
rs201833154	6:121,576,518	C/G	—	likely benign
rs747354586	6:121,577,249	A/G	—	uncertain significance
rs1583424407	6:121,577,250	T/G	—	uncertain significance
rs1583424438	6:121,577,252	G/A	—	uncertain significance
rs2535774810	6:121,577,253	A/T	—	uncertain significance
rs80160290	6:121,577,270	G/A	—	benign
rs1476004780	6:121,577,299	A/G	—	likely benign
rs750463642	6:121,577,312	C/T	—	uncertain significance
rs12203967	6:121,577,363	G/A	—	uncertain significance
rs7745023	6:121,577,370	T/C	—	benign
rs370038365	6:121,577,386	G/A	—	likely benign
rs2535777428	6:121,577,397	T/C	—	uncertain significance
rs143181650	6:121,577,414	A/G	—	uncertain significance
rs770569513	6:121,577,442	A/G	—	likely benign

Showing 100 of 191 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.