NCF2

neutrophil cytosolic factor 2

Summary

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

Known Variants496 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886045646	1:183,524,743	A/T	—	uncertain significance
rs886045647	1:183,524,808	T/G	—	uncertain significance
rs796860	1:183,524,855	C/A	—	benign
rs201050705	1:183,524,991	G/A	—	uncertain significance
rs367946786	1:183,525,156	T/G	—	conflicting classifications of pathogenicity
rs768748386	1:183,525,253	C/G	—	uncertain significance
rs781431052	1:183,525,256	G/A	—	likely benign
rs762269733	1:183,525,258	C/G	—	uncertain significance
rs139108402	1:183,525,266	C/T	—	uncertain significance
rs1484391507	1:183,525,267	G/A	—	uncertain significance
rs2102867422	1:183,525,279	A/C	—	uncertain significance
rs534490818	1:183,525,280	A/C	—	uncertain significance
rs143901397	1:183,525,282	C/G	—	likely benign
rs2527873014	1:183,525,284	G/A	—	uncertain significance
rs1038329001	1:183,525,288	T/C	—	conflicting classifications of pathogenicity
rs1391418738	1:183,525,290	G/A	—	uncertain significance
rs369006606	1:183,525,291	C/T	—	uncertain significance
rs769779675	1:183,525,292	G/A	—	likely benign
rs1467304073	1:183,525,294	A/G	—	uncertain significance
rs886039749	1:183,525,310	T/G	—	uncertain significance
rs897063287	1:183,525,311	T/C	—	uncertain significance
rs1671768686	1:183,525,314	G/C	—	uncertain significance
rs757201201	1:183,525,319	A/G	—	likely benign
rs937597401	1:183,525,320	A/G	—	uncertain significance
rs1572142355	1:183,525,326	A/G	—	uncertain significance
rs544453576	1:183,525,331	C/A	—	likely benign
rs745740745	1:183,525,333	C/T	—	uncertain significance
rs886045651	1:183,525,336	T/C	—	uncertain significance
rs556748175	1:183,525,343	C/T	—	likely benign
rs1482490757	1:183,525,348	C/G	—	uncertain significance
rs768896227	1:183,525,366	C/G	—	uncertain significance
rs1572142441	1:183,525,370	T/C	—	likely benign
rs699244	1:183,525,452	G/T	—	benign
rs789180	1:183,525,620	A/T	—	benign
rs2102875481	1:183,529,212	G/A	—	likely benign
rs2527893458	1:183,529,213	T/C	—	likely benign
rs1298509696	1:183,529,219	A/T	—	likely benign
rs2527893525	1:183,529,220	G/A	—	likely benign
rs1671974257	1:183,529,237	A/G	—	uncertain significance
rs896210830	1:183,529,239	A/G	—	uncertain significance
rs146762552	1:183,529,253	A/G	—	likely benign
rs751096649	1:183,529,255	C/T	—	uncertain significance
rs1191336717	1:183,529,258	C/G	—	uncertain significance
rs1451425447	1:183,529,262	C/A	—	uncertain significance
rs1671976478	1:183,529,272	A/G	—	uncertain significance
rs766880844	1:183,529,280	T/C	—	likely benign
rs1671977097	1:183,529,282	G/A	—	uncertain significance
rs1304485344	1:183,529,286	G/T	—	likely benign
rs750384875	1:183,529,289	A/G	—	likely benign
rs1671977818	1:183,529,295	A/G	—	likely benign
rs779867537	1:183,529,298	A/G	—	likely benign
rs886045652	1:183,529,314	A/C	—	uncertain significance
rs886343232	1:183,529,316	T/C	—	likely benign
rs749065525	1:183,529,322	G/A	—	likely benign
rs1671979597	1:183,529,324	C/G	—	uncertain significance
rs142633260	1:183,529,335	T/C	—	uncertain significance
rs55761650	1:183,529,339	G/A	—	likely benign
rs2527894576	1:183,529,352	G/A	—	likely benign
rs141569987	1:183,529,357	T/C	—	benign
rs747548282	1:183,529,359	G/A	—	uncertain significance
rs886045653	1:183,529,363	C/A	—	uncertain significance
rs759940920	1:183,529,378	C/T	—	uncertain significance
rs979540396	1:183,529,380	T/G	—	uncertain significance
rs1671983911	1:183,529,411	G/A	—	uncertain significance
rs2102876049	1:183,529,414	A/G	—	uncertain significance
rs533465609	1:183,529,417	A/G	—	likely benign
rs1305508752	1:183,529,421	A/G	—	likely benign
rs886045654	1:183,529,423	G/C	—	conflicting classifications of pathogenicity
rs370204795	1:183,529,424	G/A	—	likely benign
rs9425306	1:183,529,654	G/A	—	benign
rs3845461	1:183,532,200	A/G	—	benign
rs951905752	1:183,532,313	C/G	—	likely benign
rs2102882083	1:183,532,314	C/T	—	likely benign
rs1451404544	1:183,532,315	C/T	—	likely benign
rs2527908578	1:183,532,318	C/T	—	likely benign
rs2102882099	1:183,532,320	T/C	—	likely benign
rs2102882126	1:183,532,333	T/C	—	likely benign
rs745334269	1:183,532,336	G/C	—	uncertain significance
rs373876135	1:183,532,347	A/G	—	uncertain significance
rs1672149399	1:183,532,352	G/C	—	uncertain significance
rs2102882201	1:183,532,363	G/A	—	likely benign
rs35012521	1:183,532,364	T/A	—	likely benign
rs1244040870	1:183,532,366	T/C	—	likely benign
rs886045655	1:183,532,373	T/C	—	uncertain significance
rs1672150097	1:183,532,375	G/T	—	likely benign
rs377591562	1:183,532,378	C/A	—	uncertain significance
rs760169471	1:183,532,384	A/C	—	uncertain significance
rs2527908908	1:183,532,386	C/T	—	uncertain significance
rs1280414227	1:183,532,396	G/A	—	likely benign
rs528239550	1:183,532,408	G/A	—	likely benign
rs1672152222	1:183,532,411	C/T	—	likely benign
rs1672152632	1:183,532,414	C/T	—	likely benign
rs2102882371	1:183,532,426	G/T	—	uncertain significance
rs758694739	1:183,532,429	C/T	—	likely benign
rs370251291	1:183,532,430	C/T	—	uncertain significance
rs145970396	1:183,532,431	G/A	—	uncertain significance
rs145229115	1:183,532,436	C/T	—	conflicting classifications of pathogenicity
rs13306575	1:183,532,437	G/A	missense variant	likely benign
rs749606885	1:183,532,440	A/C	—	pathogenic
rs55795842	1:183,532,445	G/C	—	conflicting classifications of pathogenicity

Showing 100 of 496 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.