ANGPT1

angiopoietin 1

Summary

This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]

Known Variants240 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2507800	8:108,262,669	T/A	downstream gene variant	—
rs377442517	8:108,264,099	C/T	—	uncertain significance
rs144684252	8:108,264,100	G/A	—	uncertain significance
rs2488090806	8:108,264,103	T/C	—	uncertain significance
rs749037238	8:108,264,111	G/A	—	uncertain significance
rs774208271	8:108,264,120	C/T	—	uncertain significance
rs771962601	8:108,264,121	G/A	—	uncertain significance
rs554733730	8:108,264,124	A/G	—	likely benign
rs1404123561	8:108,264,125	G/A	—	likely benign
rs907782415	8:108,264,149	G/A	—	likely benign
rs199579578	8:108,264,169	G/T	—	uncertain significance
rs765706787	8:108,264,189	G/A	—	uncertain significance
rs753167653	8:108,264,192	G/T	—	uncertain significance
rs200481277	8:108,264,200	C/T	—	uncertain significance
rs2129977300	8:108,264,261	A/C	—	likely benign
rs10088493	8:108,264,273	A/G	—	benign
rs2514868	8:108,267,915	C/G	—	—
rs2514879	8:108,273,318	T/G	intron variant	—
rs2507804	8:108,274,683	T/C	intron variant	—
rs2514882	8:108,275,781	C/T	intron variant	—
rs2514883	8:108,275,857	G/C	—	—
rs2488118538	8:108,276,435	C/T	—	likely benign
rs2130036507	8:108,276,445	T/C	—	uncertain significance
rs754622040	8:108,276,516	A/G	—	likely benign
rs151217810	8:108,276,522	G/A	—	likely benign
rs564597000	8:108,276,530	T/A	—	uncertain significance
rs2488118993	8:108,276,592	A/G	—	likely benign
rs770955448	8:108,276,597	A/C	—	likely benign
rs10505100	8:108,278,616	C/A	intron variant	—
rs6993449	8:108,281,427	C/G	intron variant	—
rs13274594	8:108,285,591	A/G	intron variant	—
rs10505102	8:108,288,349	T/A	intron variant	—
rs4236786	8:108,291,878	C/A	—	—
rs66602224	8:108,293,718	G/C	—	—
rs758150012	8:108,296,899	G/A	—	likely benign
rs140355694	8:108,296,921	C/T	—	likely benign
rs1431512891	8:108,296,929	T/G	—	uncertain significance
rs757109289	8:108,296,931	C/T	—	uncertain significance
rs1012818729	8:108,296,937	T/A	—	uncertain significance
rs2130136174	8:108,296,951	C/A	—	uncertain significance
rs2488165946	8:108,296,960	G/C	—	likely benign
rs1814097216	8:108,296,962	C/G	—	uncertain significance
rs144094042	8:108,296,963	T/C	—	likely benign
rs146465357	8:108,296,964	C/T	—	conflicting classifications of pathogenicity
rs150101500	8:108,296,969	C/A	—	likely benign
rs768981883	8:108,296,998	G/A	—	likely benign
rs774576736	8:108,297,001	T/C	—	uncertain significance
rs200226727	8:108,297,005	C/G	—	uncertain significance
rs1814099457	8:108,297,012	T/G	—	uncertain significance
rs2130136668	8:108,297,023	G/A	—	likely benign
rs2488166268	8:108,297,027	A/G	—	uncertain significance
rs2130136796	8:108,297,051	T/C	—	uncertain significance
rs201186487	8:108,297,059	G/A	—	likely benign
rs372310874	8:108,297,080	G/A	—	likely benign
rs1814101812	8:108,297,088	T/C	—	likely benign
rs1814101903	8:108,297,090	T/C	—	likely benign
rs12545727	8:108,297,881	G/T	—	—
rs56134158	8:108,305,960	G/A	—	benign
rs774828363	8:108,306,146	T/A	—	likely benign
rs10505104	8:108,306,155	G/C	—	benign
rs763608096	8:108,306,161	T/C	—	uncertain significance
rs2488186898	8:108,306,199	G/A	—	likely benign
rs1814346830	8:108,306,206	A/G	—	likely benign
rs774087006	8:108,306,208	C/T	—	uncertain significance
rs1338241505	8:108,306,216	T/C	—	uncertain significance
rs2488187045	8:108,306,225	A/G	—	uncertain significance
rs1814348112	8:108,306,239	C/T	—	likely benign
rs766381515	8:108,306,240	C/T	—	uncertain significance
rs753842334	8:108,306,243	T/C	—	uncertain significance
rs1034538028	8:108,306,253	T/C	—	uncertain significance
rs947687073	8:108,306,256	T/C	—	uncertain significance
rs1335447380	8:108,306,270	C/T	—	likely benign
rs1317858140	8:108,306,275	G/A	—	likely benign
rs748382896	8:108,306,277	A/G	—	likely benign
rs2130181121	8:108,306,285	G/A	—	likely benign
rs10110459	8:108,306,367	C/T	—	benign
rs6469108	8:108,306,487	A/G	—	benign
rs10095838	8:108,306,503	C/A	—	benign
rs4472483	8:108,315,277	T/G	—	benign
rs199717560	8:108,315,449	C/A	—	likely benign
rs16876014	8:108,315,462	T/G	—	uncertain significance
rs1814635852	8:108,315,472	T/C	—	uncertain significance
rs1343604931	8:108,315,476	G/C	—	uncertain significance
rs1296188303	8:108,315,503	T/C	—	uncertain significance
rs1814637117	8:108,315,526	C/G	—	uncertain significance
rs2488209011	8:108,315,537	T/C	—	likely benign
rs1270150679	8:108,315,555	A/C	—	uncertain significance
rs1814638490	8:108,315,571	T/G	—	uncertain significance
rs549007148	8:108,315,583	C/T	—	uncertain significance
rs1315102274	8:108,315,586	T/C	—	uncertain significance
rs746403903	8:108,315,588	T/C	—	likely benign
rs1586204670	8:108,315,593	A/C	—	uncertain significance
rs1288689063	8:108,315,605	A/G	—	likely benign
rs36036692	8:108,319,395	C/G	intron variant	—
rs10955448	8:108,325,963	G/A	intron variant	—
rs2488251431	8:108,334,104	A/T	—	likely benign
rs533440965	8:108,334,106	T/C	—	benign
rs1815157737	8:108,334,124	C/T	—	uncertain significance
rs2488251536	8:108,334,136	T/C	—	uncertain significance
rs756614536	8:108,334,148	C/G	—	uncertain significance

Showing 100 of 240 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.