CFP

complement factor properdin

Summary

This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]

Known Variants160 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138490907	X:47,483,672	T/A	—	benign
rs934709132	X:47,483,677	G/C	—	likely benign
rs370014336	X:47,483,710	C/T	—	likely benign
rs1367480015	X:47,483,715	G/A	—	uncertain significance
rs768994510	X:47,483,724	G/C	—	uncertain significance
rs2147935556	X:47,483,736	C/T	—	uncertain significance
rs776785115	X:47,483,741	A/G	—	uncertain significance
rs141133000	X:47,483,752	C/T	—	likely benign
rs2519715052	X:47,483,755	T/C	—	likely benign
rs773405705	X:47,483,760	G/A	—	likely benign
rs2057959898	X:47,483,764	C/T	—	likely benign
rs762270639	X:47,483,771	C/T	—	uncertain significance
rs2147935585	X:47,483,775	G/T	—	uncertain significance
rs2519715083	X:47,483,783	C/G	—	uncertain significance
rs752325590	X:47,483,793	A/C	—	uncertain significance
rs1048118	X:47,483,800	G/A	synonymous variant	benign
rs769210799	X:47,483,853	G/A	—	likely benign
rs773460874	X:47,485,438	A/G	—	likely benign
rs1332190764	X:47,485,444	C/T	—	likely benign
rs1178102878	X:47,485,456	C/T	—	uncertain significance
rs132630261	X:47,485,461	A/C	missense variant	pathogenic
rs1421421234	X:47,485,464	T/C	—	uncertain significance
rs774205180	X:47,485,465	G/A	—	likely benign
rs369493455	X:47,485,478	G/A	—	uncertain significance
rs757339568	X:47,485,496	G/C	—	uncertain significance
rs373037904	X:47,485,503	T/C	—	uncertain significance
rs1167161113	X:47,485,514	C/T	—	uncertain significance
rs756946812	X:47,485,521	G/A	—	uncertain significance
rs961523439	X:47,485,522	G/A	—	likely benign
rs2519716163	X:47,485,524	G/C	—	uncertain significance
rs2057967383	X:47,485,527	T/G	—	uncertain significance
rs755279703	X:47,485,574	A/G	—	likely benign
rs2519716279	X:47,485,708	C/G	—	likely benign
rs935700885	X:47,485,742	T/C	—	uncertain significance
rs771963405	X:47,485,776	G/A	—	likely benign
rs2519716324	X:47,485,783	C/T	—	uncertain significance
rs2519716350	X:47,485,810	C/T	—	uncertain significance
rs371351644	X:47,485,836	C/T	—	likely benign
rs1603083122	X:47,485,874	G/A	—	conflicting classifications of pathogenicity
rs767897679	X:47,485,875	G/A	—	likely benign
rs144021755	X:47,485,882	G/A	—	uncertain significance
rs756621805	X:47,485,884	G/T	—	uncertain significance
rs2519716438	X:47,485,892	C/T	—	uncertain significance
rs890206386	X:47,485,895	C/T	—	uncertain significance
rs778252094	X:47,485,897	C/A	—	uncertain significance
rs1603083173	X:47,485,898	A/C	—	pathogenic
rs377699424	X:47,485,899	C/T	—	likely benign
rs2519716455	X:47,485,900	G/A	—	uncertain significance
rs757262582	X:47,485,932	G/T	—	likely benign
rs2057969207	X:47,485,937	A/G	—	likely benign
rs375455564	X:47,486,165	T/C	—	benign
rs1362652835	X:47,486,192	T/C	—	uncertain significance
rs764638136	X:47,486,199	T/C	—	uncertain significance
rs757743217	X:47,486,203	G/A	—	likely benign
rs61737993	X:47,486,217	C/T	—	benign
rs1404194508	X:47,486,218	G/A	—	likely benign
rs28935480	X:47,486,219	C/A	missense variant	pathogenic
rs745901112	X:47,486,233	G/A	—	likely benign
rs2147936766	X:47,486,239	A/G	—	likely benign
rs766160459	X:47,486,247	G/A	—	likely benign
rs746857415	X:47,486,248	C/T	—	likely benign
rs768545409	X:47,486,263	C/T	—	likely benign
rs1325258357	X:47,486,264	G/A	—	uncertain significance
rs769720636	X:47,486,343	C/T	—	uncertain significance
rs2519716790	X:47,486,347	T/A	—	likely pathogenic
rs1036390611	X:47,486,525	C/T	—	likely benign
rs8177077	X:47,486,558	C/T	—	benign
rs1406008963	X:47,486,567	T/A	—	uncertain significance
rs147421467	X:47,486,577	G/A	—	likely benign
rs200036265	X:47,486,590	G/A	—	conflicting classifications of pathogenicity
rs2519717019	X:47,486,597	G/A	—	uncertain significance
rs1001427977	X:47,486,604	A/C	—	likely benign
rs769690133	X:47,486,605	G/A	—	uncertain significance
rs777757134	X:47,486,607	A/T	—	likely benign
rs770396604	X:47,486,626	G/A	—	uncertain significance
rs2519717053	X:47,486,632	G/A	—	uncertain significance
rs185246758	X:47,486,641	C/T	—	uncertain significance
rs1444150137	X:47,486,642	G/A	—	uncertain significance
rs367635632	X:47,486,643	G/A	—	benign
rs372336803	X:47,486,648	G/T	—	likely benign
rs1203449452	X:47,486,663	C/T	—	uncertain significance
rs2147936992	X:47,486,666	G/C	—	uncertain significance
rs1384246975	X:47,486,673	A/G	—	likely benign
rs132630260	X:47,486,689	G/C	stop gained	pathogenic
rs1031008836	X:47,486,694	G/A	—	likely benign
rs8177076	X:47,486,695	G/A	—	benign
rs2519717142	X:47,486,707	C/T	—	uncertain significance
rs781475195	X:47,486,724	C/A	—	likely benign
rs755651023	X:47,486,726	C/T	—	uncertain significance
rs752493725	X:47,486,727	G/A	—	likely benign
rs2057973476	X:47,486,734	G/A	—	uncertain significance
rs1436451900	X:47,486,751	G/A	—	likely benign
rs376333570	X:47,486,914	T/C	—	uncertain significance
rs1440928767	X:47,486,927	G/C	—	uncertain significance
rs369411474	X:47,486,962	C/T	—	uncertain significance
rs132630258	X:47,486,963	G/A	stop gained	pathogenic
rs1410310061	X:47,486,967	G/T	—	likely benign
rs200131215	X:47,486,968	C/T	—	conflicting classifications of pathogenicity
rs1454386310	X:47,486,969	G/A	—	uncertain significance
rs2519717339	X:47,486,972	T/C	—	uncertain significance

Showing 100 of 160 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.