DRC1

dynein regulatory complex subunit 1

Summary

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]

Known Variants398 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112737754	2:26,624,747	C/A	—	benign
rs114557669	2:26,624,818	T/C	—	likely benign
rs9789650	2:26,624,843	T/C	—	benign
rs2465338579	2:26,624,862	A/T	—	uncertain significance
rs759091863	2:26,624,864	C/T	—	uncertain significance
rs950686026	2:26,624,866	G/T	—	likely benign
rs2465338585	2:26,624,867	C/T	—	uncertain significance
rs767420758	2:26,624,871	G/A	—	uncertain significance
rs746939507	2:26,624,872	G/A	—	likely benign
rs146049908	2:26,624,883	C/T	—	conflicting classifications of pathogenicity
rs116549039	2:26,624,893	G/C	—	likely benign
rs757114521	2:26,624,896	C/A	—	conflicting classifications of pathogenicity
rs149082901	2:26,624,903	G/A	—	uncertain significance
rs753185786	2:26,624,913	C/T	—	uncertain significance
rs141160156	2:26,624,914	C/T	—	likely benign
rs770464153	2:26,624,928	C/A	—	uncertain significance
rs778586998	2:26,624,931	C/G	—	uncertain significance
rs745542616	2:26,624,934	C/G	—	uncertain significance
rs771532771	2:26,624,940	A/G	—	uncertain significance
rs768704103	2:26,624,944	C/T	—	likely benign
rs200121746	2:26,624,955	A/G	—	likely benign
rs778388067	2:26,624,972	C/G	—	uncertain significance
rs1261893984	2:26,624,973	G/C	—	uncertain significance
rs779282480	2:26,624,991	C/T	—	uncertain significance
rs745457802	2:26,624,994	G/T	—	uncertain significance
rs771727269	2:26,625,002	G/T	—	uncertain significance
rs1572346150	2:26,625,010	G/A	—	likely benign
rs1341994586	2:26,625,012	G/T	—	uncertain significance
rs773150423	2:26,625,023	G/A	—	likely benign
rs759817036	2:26,625,024	G/C	—	likely benign
rs13003230	2:26,625,042	A/C	—	benign
rs10194156	2:26,636,978	G/T	—	benign
rs1344734	2:26,637,068	C/T	—	benign
rs10188538	2:26,637,172	T/C	—	benign
rs1016897921	2:26,637,205	A/C	—	likely benign
rs1311428069	2:26,637,225	G/C	—	uncertain significance
rs74936036	2:26,637,228	T/C	—	benign
rs780737842	2:26,637,230	T/C	—	likely benign
rs927792575	2:26,637,234	G/A	—	uncertain significance
rs138917435	2:26,637,247	A/G	—	conflicting classifications of pathogenicity
rs149398412	2:26,637,271	G/C	—	uncertain significance
rs2465359374	2:26,637,274	A/G	—	uncertain significance
rs776739782	2:26,637,276	A/C	—	uncertain significance
rs201097702	2:26,637,293	C/A	—	uncertain significance
rs375961396	2:26,637,294	C/T	—	pathogenic
rs148643291	2:26,637,295	G/A	—	uncertain significance
rs1476611473	2:26,637,308	T/C	—	likely benign
rs1342111382	2:26,637,309	G/T	—	likely benign
rs7422580	2:26,641,514	A/T	intron variant	—
rs60703745	2:26,643,814	T/G	—	benign
rs1663134267	2:26,644,140	A/G	—	likely benign
rs572607941	2:26,644,182	C/T	—	likely benign
rs1307580523	2:26,644,212	T/C	—	likely benign
rs774744171	2:26,644,220	T/A	—	uncertain significance
rs759868480	2:26,644,225	G/A	—	uncertain significance
rs1663137062	2:26,644,232	A/G	—	uncertain significance
rs146060843	2:26,644,242	C/T	—	likely benign
rs142371860	2:26,644,264	C/T	stop gained	pathogenic
rs1572361252	2:26,644,271	A/G	—	uncertain significance
rs765588210	2:26,644,273	G/A	—	uncertain significance
rs749365742	2:26,644,276	C/T	—	likely benign
rs142306235	2:26,644,497	T/C	—	likely benign
rs114727949	2:26,646,134	C/G	intron variant	—
rs192711650	2:26,646,879	C/T	—	benign
rs77096876	2:26,646,989	C/A	—	benign
rs115850291	2:26,647,014	A/G	—	likely benign
rs77720720	2:26,647,071	C/T	—	benign
rs1188964676	2:26,647,124	T/A	—	likely benign
rs2465381819	2:26,647,137	A/G	—	likely pathogenic
rs1378377620	2:26,647,149	C/T	—	likely benign
rs1199545365	2:26,647,161	G/T	—	uncertain significance
rs2465381898	2:26,647,173	C/T	—	pathogenic
rs770549722	2:26,647,178	C/A	—	uncertain significance
rs200560247	2:26,647,184	C/T	—	likely benign
rs1333711600	2:26,647,191	A/G	—	uncertain significance
rs2465381963	2:26,647,193	C/A	—	likely benign
rs201245045	2:26,647,200	A/C	—	uncertain significance
rs139583194	2:26,647,203	T/G	—	uncertain significance
rs1663226917	2:26,647,209	G/T	—	pathogenic
rs1235275928	2:26,647,235	A/G	—	likely benign
rs1167224672	2:26,647,242	T/C	—	uncertain significance
rs574881831	2:26,647,245	G/A	—	uncertain significance
rs1663228984	2:26,647,253	C/T	—	likely benign
rs368096684	2:26,647,258	C/T	—	uncertain significance
rs762794275	2:26,647,261	A/C	—	uncertain significance
rs754721769	2:26,647,276	C/T	—	uncertain significance
rs7423300	2:26,647,277	T/A	—	likely benign
rs778849420	2:26,647,283	C/T	—	likely benign
rs780717600	2:26,647,310	C/T	—	uncertain significance
rs2147987459	2:26,647,319	G/A	—	likely benign
rs79594098	2:26,647,334	A/G	—	benign
rs77897642	2:26,647,415	G/C	—	likely benign
rs7586702	2:26,647,529	T/C	—	benign
rs140830634	2:26,650,293	A/T	intron variant	—
rs140942079	2:26,652,185	G/A	—	likely benign
rs1000000016	2:26,652,482	A/G	—	likely benign
rs147573624	2:26,652,516	C/T	—	likely benign
rs773865451	2:26,652,558	C/T	—	likely benign
rs1160786100	2:26,652,571	C/T	—	uncertain significance
rs141540461	2:26,652,572	G/A	—	uncertain significance

Showing 100 of 398 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.