DNAAF11

dynein axonemal assembly factor 11

Summary

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Known Variants218 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116329113	8:133,584,315	A/G	—	conflicting classifications of pathogenicity
rs1814250341	8:133,584,357	G/C	—	uncertain significance
rs139222648	8:133,584,361	T/C	—	uncertain significance
rs549691657	8:133,584,375	T/C	—	uncertain significance
rs115309048	8:133,584,481	T/A	—	uncertain significance
rs374717230	8:133,584,486	A/C	—	uncertain significance
rs559073925	8:133,584,491	G/T	—	uncertain significance
rs1814269845	8:133,584,522	G/T	—	uncertain significance
rs144068846	8:133,584,549	A/C	—	conflicting classifications of pathogenicity
rs9297853	8:133,584,558	A/G	—	likely benign
rs146460901	8:133,584,563	C/G	—	likely benign
rs139131485	8:133,584,564	G/A	—	conflicting classifications of pathogenicity
rs2537457957	8:133,584,565	G/A	—	uncertain significance
rs749984059	8:133,584,569	C/T	—	likely benign
rs78620801	8:133,584,612	A/G	—	benign
rs2537458627	8:133,584,620	G/C	—	likely benign
rs2537458736	8:133,584,627	G/A	—	uncertain significance
rs758116681	8:133,584,630	C/T	—	uncertain significance
rs369985188	8:133,584,631	G/A	—	uncertain significance
rs1814290668	8:133,584,638	G/C	—	likely benign
rs953761040	8:133,584,650	T/C	—	likely benign
rs886062700	8:133,584,655	C/T	—	uncertain significance
rs770349365	8:133,584,661	C/A	—	uncertain significance
rs139369647	8:133,584,662	T/G	—	likely benign
rs1370395409	8:133,584,671	C/T	—	likely benign
rs915071476	8:133,584,674	A/G	—	likely benign
rs763386182	8:133,584,683	T/C	—	likely benign
rs2537459371	8:133,584,684	G/A	—	uncertain significance
rs1030551584	8:133,584,687	T/C	—	uncertain significance
rs1554667007	8:133,584,697	G/T	—	uncertain significance
rs149631064	8:133,584,710	T/C	—	conflicting classifications of pathogenicity
rs16904707	8:133,584,821	G/A	—	benign
rs55654649	8:133,584,907	C/T	—	benign
rs76543902	8:133,595,685	T/C	—	benign
rs137970679	8:133,595,908	A/C	—	likely benign
rs757028380	8:133,595,924	G/A	—	likely benign
rs1815570070	8:133,595,931	A/T	—	likely benign
rs377220897	8:133,595,935	T/C	—	likely benign
rs1815572053	8:133,595,940	C/T	—	pathogenic
rs1815572688	8:133,595,944	G/C	—	uncertain significance
rs1035489731	8:133,595,956	T/G	—	uncertain significance
rs557554343	8:133,595,970	C/T	—	likely benign
rs779471179	8:133,595,981	T/C	—	uncertain significance
rs776429452	8:133,595,989	T/C	—	uncertain significance
rs139786749	8:133,595,994	T/C	—	likely benign
rs1815582943	8:133,595,999	G/A	—	pathogenic
rs2537538397	8:133,596,000	C/T	—	likely benign
rs77289466	8:133,596,005	C/T	—	conflicting classifications of pathogenicity
rs919823457	8:133,596,019	T/A	—	uncertain significance
rs1815588792	8:133,596,025	A/T	—	uncertain significance
rs1815589899	8:133,596,033	T/C	—	likely benign
rs191376365	8:133,596,044	C/T	—	likely benign
rs143424044	8:133,596,199	C/T	—	likely benign
rs761700376	8:133,622,401	A/T	—	likely benign
rs371118771	8:133,622,402	C/T	—	likely benign
rs773041232	8:133,622,406	A/T	—	uncertain significance
rs1818509261	8:133,622,409	T/C	—	uncertain significance
rs916523057	8:133,622,414	T/G	—	uncertain significance
rs760449498	8:133,622,419	A/G	—	uncertain significance
rs759547176	8:133,622,434	T/C	—	uncertain significance
rs765310271	8:133,622,435	G/T	—	uncertain significance
rs148424037	8:133,622,443	G/C	—	uncertain significance
rs201309011	8:133,622,456	T/C	—	uncertain significance
rs1365254688	8:133,622,471	C/T	—	uncertain significance
rs142575670	8:133,622,484	T/C	—	likely benign
rs1381675903	8:133,622,493	G/A	—	likely benign
rs1485257977	8:133,622,498	G/C	—	uncertain significance
rs34800624	8:133,622,633	T/G	—	benign
rs147713574	8:133,623,283	G/A	—	likely benign
rs564023548	8:133,623,528	G/T	—	uncertain significance
rs1451885715	8:133,623,557	C/T	—	uncertain significance
rs150975285	8:133,623,560	G/A	—	pathogenic
rs746914801	8:133,623,563	C/A	—	uncertain significance
rs745624673	8:133,623,564	G/A	—	likely benign
rs140835420	8:133,623,571	G/A	—	uncertain significance
rs368167391	8:133,623,573	T/C	—	likely benign
rs375060512	8:133,623,587	C/T	—	uncertain significance
rs750858514	8:133,623,588	G/T	—	likely benign
rs756431151	8:133,623,595	G/A	—	uncertain significance
rs199759512	8:133,623,596	A/T	—	uncertain significance
rs200458059	8:133,623,608	A/T	—	uncertain significance
rs117077775	8:133,627,162	T/G	—	likely benign
rs75851179	8:133,627,243	G/C	—	likely benign
rs185791758	8:133,627,266	C/T	—	likely benign
rs780037666	8:133,627,270	G/T	—	conflicting classifications of pathogenicity
rs769060474	8:133,627,275	T/C	—	likely benign
rs2537813639	8:133,627,283	C/A	—	pathogenic
rs1355704510	8:133,627,289	G/C	—	likely benign
rs146067670	8:133,627,309	T/C	—	conflicting classifications of pathogenicity
rs773789654	8:133,627,311	T/G	—	uncertain significance
rs957674260	8:133,627,318	C/T	—	uncertain significance
rs771394029	8:133,627,319	G/A	—	likely benign
rs759877163	8:133,627,323	T/A	—	uncertain significance
rs761412567	8:133,627,351	T/C	—	likely benign
rs913389954	8:133,627,354	C/T	—	likely benign
rs200544802	8:133,627,362	G/A	—	likely benign
rs55641476	8:133,627,477	A/G	—	benign
rs2293978	8:133,627,603	A/G	—	benign
rs2272681	8:133,634,814	C/T	—	benign
rs2130271136	8:133,634,839	C/G	—	likely benign

Showing 100 of 218 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.