TTC21B

tetratricopeptide repeat domain 21B

Summary

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]

Known Variants1,059 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs60399987	2:166,730,040	G/A	—	likely benign
rs189771746	2:166,730,148	T/C	—	uncertain significance
rs1200937712	2:166,730,158	T/C	—	uncertain significance
rs6756388	2:166,730,160	C/A	—	benign
rs1001278499	2:166,730,161	C/T	—	uncertain significance
rs150328867	2:166,730,178	T/A	—	likely benign
rs145794135	2:166,730,291	G/C	—	benign
rs1046348644	2:166,730,339	G/T	—	uncertain significance
rs745335688	2:166,730,355	G/A	—	uncertain significance
rs62177807	2:166,730,387	T/C	—	benign
rs138656848	2:166,730,418	T/G	—	likely benign
rs886055021	2:166,730,535	T/G	—	uncertain significance
rs545195226	2:166,730,584	C/T	—	uncertain significance
rs746664114	2:166,730,585	G/A	—	uncertain significance
rs180737925	2:166,730,609	C/T	—	likely benign
rs547612425	2:166,730,623	G/A	—	uncertain significance
rs886055022	2:166,730,672	C/T	—	uncertain significance
rs565605248	2:166,730,721	T/C	—	uncertain significance
rs534739269	2:166,730,725	A/G	—	uncertain significance
rs56115495	2:166,730,734	T/C	—	benign
rs77199262	2:166,730,748	T/C	—	benign
rs185578095	2:166,730,749	G/A	—	likely benign
rs763021259	2:166,730,792	G/C	—	uncertain significance
rs537286454	2:166,730,805	A/G	—	uncertain significance
rs886055023	2:166,730,814	C/G	—	uncertain significance
rs117664297	2:166,730,841	T/C	—	uncertain significance
rs886055024	2:166,730,846	G/T	—	uncertain significance
rs923460925	2:166,730,905	G/T	—	uncertain significance
rs759810831	2:166,731,019	C/T	—	uncertain significance
rs74548052	2:166,731,160	C/T	—	benign
rs2105274076	2:166,731,269	G/A	—	uncertain significance
rs2105274083	2:166,731,274	T/C	—	likely benign
rs1060504949	2:166,731,277	A/G	—	likely benign
rs201470854	2:166,731,280	C/T	—	likely benign
rs967544495	2:166,731,281	G/A	—	uncertain significance
rs139327086	2:166,731,284	C/T	—	uncertain significance
rs200605660	2:166,731,285	G/A	—	uncertain significance
rs756943619	2:166,731,301	A/T	—	uncertain significance
rs147540469	2:166,731,302	T/C	—	conflicting classifications of pathogenicity
rs976520219	2:166,731,304	C/T	—	likely benign
rs1305905662	2:166,731,307	T/C	—	conflicting classifications of pathogenicity
rs2468092590	2:166,731,310	G/A	—	likely benign
rs758315682	2:166,731,315	T/C	—	uncertain significance
rs142512424	2:166,731,324	T/C	—	conflicting classifications of pathogenicity
rs749680878	2:166,731,342	C/A	—	uncertain significance
rs910204066	2:166,731,355	T/C	—	likely benign
rs200347449	2:166,731,356	A/G	—	conflicting classifications of pathogenicity
rs2468092728	2:166,731,358	A/T	—	likely benign
rs2468092742	2:166,731,361	A/C	—	likely benign
rs148034638	2:166,731,547	G/A	—	likely benign
rs6710866	2:166,731,608	A/C	—	likely benign
rs12620082	2:166,731,643	A/G	—	likely benign
rs3764998	2:166,732,527	G/T	—	benign
rs749543618	2:166,732,655	A/G	—	likely benign
rs371236669	2:166,732,656	T/C	—	likely benign
rs2468095244	2:166,732,662	T/C	—	likely benign
rs2468095252	2:166,732,664	T/G	—	likely benign
rs779470575	2:166,732,665	A/T	—	conflicting classifications of pathogenicity
rs1352833895	2:166,732,667	G/A	—	likely benign
rs745875005	2:166,732,668	T/A	—	likely benign
rs1039268887	2:166,732,691	A/G	—	uncertain significance
rs768117655	2:166,732,692	T/C	—	uncertain significance
rs139537546	2:166,732,698	C/G	—	conflicting classifications of pathogenicity
rs200855484	2:166,732,702	A/G	—	likely benign
rs762689241	2:166,732,705	T/C	—	uncertain significance
rs751390551	2:166,732,720	G/A	—	likely benign
rs373891320	2:166,732,729	T/C	—	likely benign
rs2468095436	2:166,732,739	T/C	—	uncertain significance
rs2105275776	2:166,732,744	T/C	—	likely pathogenic
rs764138635	2:166,732,745	G/A	—	uncertain significance
rs2468095508	2:166,732,759	C/G	—	likely benign
rs200361643	2:166,732,760	A/G	—	likely benign
rs75988164	2:166,732,838	G/T	—	benign
rs113973637	2:166,732,873	G/A	—	benign
rs59508470	2:166,733,029	A/C	—	likely benign
rs535253557	2:166,733,304	C/A	—	—
rs7564041	2:166,734,933	T/C	—	—
rs772796936	2:166,737,169	T/C	—	likely benign
rs2105280882	2:166,737,174	G/A	—	likely benign
rs529123534	2:166,737,176	T/C	—	conflicting classifications of pathogenicity
rs2105280892	2:166,737,178	G/A	—	likely benign
rs2468104005	2:166,737,180	C/T	—	likely benign
rs2105280902	2:166,737,187	A/T	—	uncertain significance
rs1684806310	2:166,737,190	T/C	—	likely benign
rs2468104028	2:166,737,192	C/T	—	uncertain significance
rs767458935	2:166,737,196	C/T	—	likely benign
rs140384742	2:166,737,197	G/A	—	conflicting classifications of pathogenicity
rs569067100	2:166,737,203	G/A	—	uncertain significance
rs201495700	2:166,737,206	C/T	—	uncertain significance
rs367690496	2:166,737,207	G/A	—	uncertain significance
rs755467705	2:166,737,211	G/A	—	likely benign
rs371730439	2:166,737,212	C/A	—	uncertain significance
rs769230631	2:166,737,214	A/G	—	likely benign
rs374722834	2:166,737,224	G/T	—	uncertain significance
rs2105281020	2:166,737,227	A/G	—	uncertain significance
rs1553505260	2:166,737,233	T/C	—	uncertain significance
rs1684808847	2:166,737,252	T/A	—	uncertain significance
rs367841432	2:166,737,254	T/C	—	uncertain significance
rs2105281084	2:166,737,271	C/T	—	uncertain significance
rs2105281091	2:166,737,277	G/A	—	likely benign

Showing 100 of 1,059 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.