CFD

complement factor D

Summary

This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]

Known Variants222 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs139122457	19:857,967	T/C	downstream gene variant	—
rs1021408325	19:859,682	G/A	—	likely benign
rs979752274	19:859,693	C/T	—	uncertain significance
rs377388343	19:859,704	G/A	—	likely benign
rs147192616	19:859,706	G/A	—	conflicting classifications of pathogenicity
rs536376045	19:859,722	C/A	—	likely benign
rs762944768	19:859,728	A/G	—	likely benign
rs918406652	19:859,729	G/T	—	pathogenic
rs1291961596	19:859,734	G/A	—	likely benign
rs867133169	19:859,735	G/A	—	uncertain significance
rs1363632175	19:859,743	C/G	—	uncertain significance
rs2512174649	19:859,751	A/C	—	likely benign
rs772757316	19:859,756	T/C	—	likely benign
rs563928337	19:859,759	G/C	—	likely benign
rs1247389713	19:859,760	C/A	—	likely benign
rs2035772360	19:860,602	C/T	—	likely benign
rs565504637	19:860,604	C/T	—	benign
rs929502340	19:860,605	G/T	—	likely benign
rs1484315437	19:860,608	C/A	—	likely benign
rs1300545691	19:860,610	C/T	—	likely benign
rs750243947	19:860,611	C/G	—	uncertain significance
rs1414550562	19:860,612	C/T	—	likely benign
rs1021715434	19:860,616	G/C	—	likely pathogenic
rs1374817974	19:860,619	G/A	—	uncertain significance
rs755875279	19:860,620	C/T	—	uncertain significance
rs745876302	19:860,621	G/A	—	likely benign
rs2035772782	19:860,626	C/G	—	uncertain significance
rs753424422	19:860,628	C/G	—	uncertain significance
rs2512175857	19:860,630	T/G	—	likely benign
rs1279328101	19:860,636	G/T	—	likely benign
rs2512175880	19:860,638	T/G	—	uncertain significance
rs2035773222	19:860,640	C/G	—	uncertain significance
rs977887834	19:860,645	C/A	—	likely benign
rs747489118	19:860,654	G/C	—	uncertain significance
rs2512175921	19:860,657	C/T	—	likely benign
rs1343995785	19:860,666	C/G	—	uncertain significance
rs899532169	19:860,668	C/T	—	uncertain significance
rs1173115393	19:860,670	C/A	—	likely benign
rs1371875198	19:860,671	G/C	—	uncertain significance
rs1409841014	19:860,673	C/T	—	uncertain significance
rs746199962	19:860,677	A/G	—	uncertain significance
rs932557882	19:860,678	C/T	—	likely benign
rs1275194838	19:860,679	A/G	—	uncertain significance
rs2145160269	19:860,681	G/A	—	uncertain significance
rs1343964924	19:860,683	C/A	—	uncertain significance
rs104894667	19:860,686	C/A	stop gained	pathogenic
rs960301536	19:860,687	G/A	—	likely benign
rs763026937	19:860,699	C/A	—	uncertain significance
rs1188815840	19:860,703	G/A	—	uncertain significance
rs774281696	19:860,708	C/T	—	likely benign
rs1223433302	19:860,712	T/C	—	uncertain significance
rs1475552802	19:860,714	C/A	—	pathogenic
rs1368368965	19:860,715	G/A	—	uncertain significance
rs1406757299	19:860,718	G/A	—	uncertain significance
rs1330303289	19:860,724	C/T	—	likely benign
rs2035776375	19:860,725	T/C	—	uncertain significance
rs2512176111	19:860,731	C/T	—	uncertain significance
rs577452799	19:860,742	G/A	—	uncertain significance
rs546965920	19:860,747	G/C	—	likely benign
rs753471486	19:860,751	G/A	—	uncertain significance
rs754456696	19:860,753	G/A	—	likely benign
rs1349313331	19:860,763	C/T	—	likely benign
rs35186399	19:860,766	G/A	—	benign
rs780270249	19:860,775	T/G	—	likely pathogenic
rs199583783	19:860,780	G/T	—	likely benign
rs182067009	19:860,784	G/A	—	benign
rs1245595648	19:860,786	G/A	—	likely benign
rs749588608	19:860,846	C/G	—	likely benign
rs1629038	19:860,852	C/G	—	benign
rs1346303573	19:860,854	T/A	—	uncertain significance
rs1175245492	19:860,859	A/C	—	likely pathogenic
rs2512176402	19:860,863	C/T	—	uncertain significance
rs759228752	19:860,867	C/A	—	uncertain significance
rs1379347966	19:860,868	G/C	—	uncertain significance
rs2145160949	19:860,879	G/A	—	likely benign
rs1171887276	19:860,880	G/T	—	uncertain significance
rs1464282313	19:860,881	T/C	—	uncertain significance
rs1400160407	19:860,885	C/T	—	likely benign
rs769507232	19:860,893	C/T	—	uncertain significance
rs774965040	19:860,898	T/G	—	uncertain significance
rs112469647	19:860,905	C/T	—	uncertain significance
rs138859256	19:860,906	G/A	—	likely benign
rs371606125	19:860,913	G/C	—	uncertain significance
rs1254712688	19:860,915	G/T	—	uncertain significance
rs1345193239	19:860,916	C/T	—	uncertain significance
rs754255966	19:860,917	C/T	—	uncertain significance
rs2145161072	19:860,918	C/T	—	likely benign
rs755261007	19:860,919	T/C	—	uncertain significance
rs779202734	19:860,923	A/G	—	uncertain significance
rs1269237430	19:860,926	G/A	—	uncertain significance
rs1198090093	19:860,929	T/A	—	uncertain significance
rs752800376	19:860,933	C/A	—	pathogenic
rs758677702	19:860,934	G/T	—	uncertain significance
rs374520010	19:860,946	G/C	—	uncertain significance
rs1428803356	19:860,947	C/T	—	uncertain significance
rs773904241	19:860,957	C/T	—	likely benign
rs141885392	19:860,960	G/A	—	likely benign
rs753097110	19:860,970	C/T	—	uncertain significance
rs758730747	19:860,972	C/G	—	likely benign
rs751710883	19:860,982	G/C	—	uncertain significance

Showing 100 of 222 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.