F9

coagulation factor IX

Summary

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]

Known Variants472 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs411017	X:138,612,102	A/G	—	benign
rs378815	X:138,612,197	T/C	—	benign
rs2148352851	X:138,612,869	G/C	—	pathogenic
rs1178811105	X:138,612,875	T/A	—	pathogenic
rs1166164399	X:138,612,889	G/A	—	pathogenic
rs1927322453	X:138,612,890	A/T	—	pathogenic
rs2148352869	X:138,612,902	T/C	—	pathogenic
rs761036720	X:138,612,905	C/G	—	uncertain significance
rs1927322926	X:138,612,907	A/G	—	pathogenic
rs766259893	X:138,612,930	C/A	—	likely benign
rs148060786	X:138,612,931	G/A	—	benign
rs1335753805	X:138,612,932	C/T	—	likely benign
rs1281720529	X:138,612,938	C/T	—	likely benign
rs150190385	X:138,612,942	A/T	—	benign
rs2520718136	X:138,612,950	A/C	—	likely benign
rs387906480	X:138,612,954	T/A	missense variant	pathogenic
rs2520718241	X:138,612,959	A/G	—	likely benign
rs1927326780	X:138,612,967	T/A	—	uncertain significance
rs768833956	X:138,612,971	C/A	—	benign
rs774612303	X:138,612,974	C/T	—	benign
rs387906474	X:138,612,975	T/C	missense variant	pathogenic
rs1337284408	X:138,612,977	C/T	—	likely benign
rs762082146	X:138,612,983	A/G	—	benign
rs1927328297	X:138,612,991	T/C	—	pathogenic
rs1569481567	X:138,612,999	G/A	—	uncertain significance
rs387906475	X:138,613,002	G/A	missense variant	pathogenic
rs387906476	X:138,613,003	A/T	missense variant	—
rs387906481	X:138,613,005	T/C	missense variant	pathogenic
rs1927329129	X:138,613,009	C/T	—	likely pathogenic
rs2148353000	X:138,613,010	A/G	—	conflicting classifications of pathogenicity
rs1603263395	X:138,613,011	G/C	—	pathogenic
rs1603263397	X:138,613,012	G/T	—	pathogenic
rs2148353009	X:138,613,013	T/C	—	pathogenic
rs1603263401	X:138,613,016	G/T	—	likely pathogenic
rs2520718932	X:138,613,019	T/C	—	likely benign
rs1603263402	X:138,613,021	C/G	—	likely benign
rs773388219	X:138,613,027	T/A	—	likely benign
rs1569481576	X:138,613,031	A/T	—	likely benign
rs3817939	X:138,613,086	A/G	—	benign
rs2520743527	X:138,619,149	A/G	—	likely benign
rs2520743542	X:138,619,150	T/A	—	likely benign
rs2520743577	X:138,619,155	C/A	—	likely benign
rs1462034593	X:138,619,160	A/G	—	likely benign
rs1603264192	X:138,619,162	A/G	—	likely benign
rs2520743760	X:138,619,182	T/C	—	likely benign
rs1169714103	X:138,619,186	A/G	—	likely benign
rs184837275	X:138,619,188	C/T	—	benign
rs367569299	X:138,619,189	G/A	—	association
rs1327097914	X:138,619,190	C/T	—	pathogenic
rs745353370	X:138,619,194	C/T	—	benign
rs200505648	X:138,619,196	A/G	—	likely benign
rs371373268	X:138,619,202	T/G	—	uncertain significance
rs1603264205	X:138,619,207	C/T	—	pathogenic
rs1275708479	X:138,619,208	G/A	—	pathogenic
rs2148356042	X:138,619,209	G/A	—	likely benign
rs776894974	X:138,619,210	C/T	—	likely benign
rs2520744264	X:138,619,215	G/A	—	likely benign
rs2520744315	X:138,619,218	G/Y	—	pathogenic
rs1556435929	X:138,619,221	T/A	—	likely pathogenic
rs1927493197	X:138,619,222	A/T	—	pathogenic
rs1556435940	X:138,619,228	G/A	—	pathogenic
rs1229048705	X:138,619,229	G/C	—	likely pathogenic
rs1470729875	X:138,619,234	T/C	—	likely benign
rs1569481966	X:138,619,241	A/T	—	likely pathogenic
rs759987427	X:138,619,243	T/A	—	pathogenic
rs137852223	X:138,619,249	C/T	stop gained	pathogenic
rs139089559	X:138,619,257	C/A	—	likely benign
rs2148356134	X:138,619,262	A/G	—	uncertain significance
rs762447016	X:138,619,269	A/C	—	uncertain significance
rs137852224	X:138,619,270	T/C	missense variant	pathogenic
rs1330779541	X:138,619,271	G/A	—	pathogenic
rs1261374056	X:138,619,272	T/C	—	likely benign
rs1447797624	X:138,619,274	T/C	—	uncertain significance
rs1569481975	X:138,619,276	G/A	—	conflicting classifications of pathogenicity
rs2520745367	X:138,619,281	A/G	—	likely benign
rs2148356172	X:138,619,285	T/A	—	likely pathogenic
rs1927497998	X:138,619,286	G/A	—	pathogenic
rs1927498635	X:138,619,294	G/T	—	pathogenic
rs137852225	X:138,619,297	G/T	stop gained	—
rs137852226	X:138,619,298	A/T	missense variant	pathogenic
rs137852227	X:138,619,303	C/T	stop gained	pathogenic
rs137852228	X:138,619,304	G/A	missense variant	pathogenic
rs1603264236	X:138,619,306	G/A	—	pathogenic
rs767303239	X:138,619,311	T/G	—	likely benign
rs1927499978	X:138,619,315	G/A	—	likely pathogenic
rs1468904853	X:138,619,316	A/T	—	likely pathogenic
rs137852229	X:138,619,317	A/C	missense variant	pathogenic
rs201120367	X:138,619,330	A/G	—	likely benign
rs1354291965	X:138,619,331	C/T	—	likely pathogenic
rs1266788575	X:138,619,337	G/A	—	pathogenic
rs2520746505	X:138,619,344	C/T	—	likely benign
rs756055116	X:138,619,346	C/T	—	likely benign
rs780142245	X:138,619,347	A/G	—	likely benign
rs1238151524	X:138,619,348	T/C	—	likely benign
rs779432737	X:138,619,350	A/G	—	likely benign
rs2520746608	X:138,619,352	A/G	—	likely benign
rs770212542	X:138,619,509	T/C	—	likely benign
rs775962002	X:138,619,513	C/T	—	likely benign
rs1374440076	X:138,619,518	T/C	—	uncertain significance
rs1434866164	X:138,619,520	G/C	—	pathogenic

Showing 100 of 472 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.