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endoglin

Summary

This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Known Variants981 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1045413208	9:130,577,375	G/A	—	uncertain significance
rs143099696	9:130,577,403	T/C	—	likely benign
rs893984357	9:130,577,427	G/A	—	uncertain significance
rs1830273631	9:130,577,428	C/T	—	uncertain significance
rs1830273682	9:130,577,431	A/T	—	uncertain significance
rs72616667	9:130,577,438	T/C	—	likely benign
rs148192743	9:130,577,469	C/T	—	likely benign
rs190129922	9:130,577,470	G/A	—	likely benign
rs529337078	9:130,577,512	G/C	—	likely benign
rs1830275627	9:130,577,523	C/T	—	uncertain significance
rs549011956	9:130,577,530	A/C	—	benign
rs1482022005	9:130,577,537	C/G	—	uncertain significance
rs1830277239	9:130,577,570	C/T	—	uncertain significance
rs41478248	9:130,577,641	C/T	—	benign
rs138178682	9:130,577,688	T/G	—	uncertain significance
rs764451017	9:130,577,695	C/T	—	uncertain significance
rs886063474	9:130,577,709	G/T	—	uncertain significance
rs886063475	9:130,577,811	G/T	—	uncertain significance
rs539680928	9:130,577,828	G/A	—	likely benign
rs553180494	9:130,577,852	G/A	—	uncertain significance
rs775604819	9:130,577,957	G/A	—	uncertain significance
rs1337723089	9:130,577,961	C/T	—	likely benign
rs768873662	9:130,577,968	A/G	—	conflicting classifications of pathogenicity
rs2539052366	9:130,577,976	G/T	—	likely benign
rs1050077	9:130,577,977	G/C	—	uncertain significance
rs774869649	9:130,577,983	C/T	—	uncertain significance
rs1351448795	9:130,578,003	C/T	—	likely benign
rs762200397	9:130,578,004	C/G	—	likely benign
rs181330955	9:130,578,006	G/A	—	likely benign
rs2539052466	9:130,578,010	C/T	—	uncertain significance
rs1354414020	9:130,578,012	G/A	—	likely benign
rs764694185	9:130,578,015	G/A	—	likely benign
rs2539052494	9:130,578,018	G/C	—	likely benign
rs752212042	9:130,578,033	C/T	—	likely benign
rs758012489	9:130,578,034	G/A	—	uncertain significance
rs1040594389	9:130,578,038	A/C	—	conflicting classifications of pathogenicity
rs1830293393	9:130,578,048	A/C	—	likely benign
rs762716634	9:130,578,054	C/T	—	likely benign
rs757113987	9:130,578,055	G/A	—	conflicting classifications of pathogenicity
rs745843047	9:130,578,062	C/T	—	uncertain significance
rs186315094	9:130,578,070	C/T	—	uncertain significance
rs780018293	9:130,578,078	G/T	—	likely benign
rs2539052670	9:130,578,081	G/T	—	likely benign
rs1085307436	9:130,578,085	C/A	missense variant	pathogenic
rs368472273	9:130,578,094	G/A	—	uncertain significance
rs908692674	9:130,578,103	G/A	—	uncertain significance
rs376579767	9:130,578,112	G/A	—	likely benign
rs371104611	9:130,578,170	C/G	—	uncertain significance
rs373626498	9:130,578,171	G/C	—	uncertain significance
rs779974705	9:130,578,180	G/A	—	conflicting classifications of pathogenicity
rs768836999	9:130,578,185	G/T	—	likely benign
rs1588572388	9:130,578,186	C/A	—	conflicting classifications of pathogenicity
rs1330057475	9:130,578,197	C/T	—	likely benign
rs2539053205	9:130,578,199	C/T	—	likely benign
rs147188969	9:130,578,201	G/C	—	conflicting classifications of pathogenicity
rs143524008	9:130,578,202	T/C	—	benign
rs1830300469	9:130,578,211	G/A	—	likely benign
rs2539053291	9:130,578,219	C/T	—	uncertain significance
rs2131871398	9:130,578,221	C/G	—	uncertain significance
rs1346184000	9:130,578,222	G/A	—	uncertain significance
rs747344646	9:130,578,223	C/T	—	likely benign
rs201031046	9:130,578,224	G/A	—	uncertain significance
rs759950184	9:130,578,229	C/A	—	likely benign
rs148002300	9:130,578,230	G/A	—	likely benign
rs1449770420	9:130,578,238	G/A	—	likely benign
rs1247240663	9:130,578,248	G/A	—	uncertain significance
rs2539053396	9:130,578,253	A/G	—	likely benign
rs1588572499	9:130,578,256	G/T	—	likely benign
rs2131871479	9:130,578,259	C/T	—	likely benign
rs1830302008	9:130,578,267	C/T	—	likely pathogenic
rs373002544	9:130,578,268	G/A	—	conflicting classifications of pathogenicity
rs1085307435	9:130,578,270	—	—	pathogenic
rs41358947	9:130,578,280	A/G	—	likely benign
rs1830302512	9:130,578,288	T/C	—	uncertain significance
rs1390519046	9:130,578,292	G/A	—	likely benign
rs1060501409	9:130,578,294	C/T	—	uncertain significance
rs1326050845	9:130,578,295	C/T	—	likely benign
rs756003321	9:130,578,300	C/T	—	uncertain significance
rs766073909	9:130,578,301	G/A	—	likely benign
rs200080694	9:130,578,303	C/T	—	likely benign
rs370943570	9:130,578,304	G/A	—	likely benign
rs201768056	9:130,578,312	C/T	—	likely benign
rs546872552	9:130,578,313	G/A	—	likely benign
rs747196026	9:130,578,315	G/A	—	uncertain significance
rs150566847	9:130,578,316	G/A	—	likely benign
rs1165364320	9:130,578,326	G/C	—	uncertain significance
rs1830304920	9:130,578,330	A/C	—	uncertain significance
rs1296395453	9:130,578,340	G/A	—	likely benign
rs1362579633	9:130,578,341	G/A	—	likely benign
rs761244549	9:130,578,342	G/A	—	likely benign
rs373611252	9:130,578,345	G/A	—	likely benign
rs201678228	9:130,578,347	C/T	—	conflicting classifications of pathogenicity
rs753536186	9:130,578,348	G/A	—	benign
rs754989823	9:130,578,351	A/G	—	likely benign
rs1085307434	9:130,578,354	A/G	coding sequence variant	pathogenic
rs10760503	9:130,578,404	G/A	—	benign
rs116246059	9:130,578,467	C/T	—	likely benign
rs41429144	9:130,578,625	G/A	—	benign
rs41417551	9:130,579,200	C/G	—	benign
rs551082475	9:130,579,349	C/T	—	likely benign

Showing 100 of 981 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.