EFEMP1

EGF-like fibulin extracellular matrix protein 1

Summary

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

Known Variants331 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1346787	2:56,092,612	C/G	—	—
rs886056188	2:56,093,120	T/G	—	uncertain significance
rs112334283	2:56,093,145	C/T	—	benign
rs540075808	2:56,093,182	G/A	—	benign
rs1802575	2:56,093,204	G/C	—	benign
rs77386452	2:56,093,246	G/T	—	benign
rs886056189	2:56,093,262	A/G	—	uncertain significance
rs146101049	2:56,093,408	G/A	—	benign
rs3791680	2:56,093,513	A/G	—	benign
rs138843899	2:56,093,521	A/G	—	benign
rs573892776	2:56,093,540	G/A	—	benign
rs186888998	2:56,093,559	G/A	—	benign
rs188698134	2:56,093,701	G/A	—	benign
rs1294065580	2:56,093,859	T/A	—	uncertain significance
rs117386259	2:56,093,960	T/G	—	benign
rs755194729	2:56,094,026	C/G	—	uncertain significance
rs1802574	2:56,094,040	T/C	—	benign
rs886056190	2:56,094,056	C/T	—	uncertain significance
rs540522685	2:56,094,062	A/T	—	uncertain significance
rs2465720142	2:56,094,208	C/A	—	uncertain significance
rs2104360072	2:56,094,210	A/G	—	pathogenic
rs963256775	2:56,094,211	A/G	—	likely benign
rs2104360130	2:56,094,220	T/C	—	likely benign
rs1391650528	2:56,094,240	A/G	—	likely benign
rs1668605199	2:56,094,249	C/T	—	uncertain significance
rs2104360214	2:56,094,253	G/T	—	uncertain significance
rs770166720	2:56,094,257	G/A	—	uncertain significance
rs150488038	2:56,094,258	T/G	—	uncertain significance
rs201035117	2:56,094,260	C/T	—	uncertain significance
rs1448130623	2:56,094,261	G/A	—	likely pathogenic
rs1449780727	2:56,094,268	C/T	—	likely benign
rs200959130	2:56,094,270	C/G	—	conflicting classifications of pathogenicity
rs891386642	2:56,094,271	T/C	—	uncertain significance
rs772639652	2:56,094,272	A/G	—	uncertain significance
rs1668606731	2:56,094,276	T/C	—	uncertain significance
rs374690853	2:56,094,277	G/A	—	conflicting classifications of pathogenicity
rs766253306	2:56,094,278	C/T	—	uncertain significance
rs759287964	2:56,094,304	G/A	—	likely benign
rs765057042	2:56,094,305	A/G	—	uncertain significance
rs2465720888	2:56,094,308	T/C	—	uncertain significance
rs1302487145	2:56,094,316	T/C	—	likely benign
rs1386374723	2:56,094,317	G/C	—	uncertain significance
rs149616551	2:56,094,322	T/C	—	likely benign
rs758641385	2:56,094,325	T/A	—	uncertain significance
rs2104360538	2:56,094,327	A/G	—	likely benign
rs139171666	2:56,094,336	C/T	—	uncertain significance
rs1399879099	2:56,094,337	G/A	—	uncertain significance
rs751641246	2:56,094,339	G/A	—	uncertain significance
rs147448993	2:56,094,340	C/A	—	likely benign
rs781775380	2:56,094,348	T/C	—	uncertain significance
rs746366927	2:56,094,351	C/T	—	uncertain significance
rs1668611394	2:56,094,357	C/G	—	uncertain significance
rs2465721332	2:56,094,377	A/G	—	likely benign
rs2104360803	2:56,094,378	A/G	—	likely benign
rs1251542223	2:56,094,386	T/C	—	likely benign
rs77784128	2:56,094,394	G/A	—	benign
rs9309272	2:56,095,366	G/T	intron variant	—
rs3791679	2:56,096,892	A/C	—	—
rs11682872	2:56,097,711	A/G	—	benign
rs373990093	2:56,097,856	C/T	—	uncertain significance
rs2104368767	2:56,097,857	G/A	—	uncertain significance
rs1432921887	2:56,097,872	C/T	—	uncertain significance
rs780748234	2:56,097,900	A/G	—	likely benign
rs780161368	2:56,097,901	G/A	—	uncertain significance
rs1668775419	2:56,097,910	G/A	—	uncertain significance
rs1668777682	2:56,097,959	C/T	—	uncertain significance
rs991475191	2:56,097,969	A/G	—	likely benign
rs775080680	2:56,097,973	C/T	—	uncertain significance
rs2104369155	2:56,097,974	G/A	—	pathogenic
rs762126695	2:56,097,976	A/G	—	uncertain significance
rs2104369172	2:56,097,977	T/C	—	uncertain significance
rs2465731924	2:56,097,984	G/A	—	likely benign
rs1553348960	2:56,097,986	A/G	—	likely pathogenic
rs2465731982	2:56,097,992	A/G	—	uncertain significance
rs915936853	2:56,097,997	A/G	—	uncertain significance
rs2465732015	2:56,097,998	T/C	—	uncertain significance
rs2104369244	2:56,098,003	T/G	—	uncertain significance
rs750455273	2:56,098,010	G/T	—	uncertain significance
rs146446706	2:56,098,015	C/A	—	uncertain significance
rs754310502	2:56,098,020	C/T	—	uncertain significance
rs1178619006	2:56,098,022	T/A	—	uncertain significance
rs2465732183	2:56,098,032	G/A	—	likely benign
rs1293885686	2:56,098,054	C/T	—	likely benign
rs751279285	2:56,098,055	A/C	—	likely benign
rs1444444756	2:56,098,056	G/C	—	likely benign
rs192404906	2:56,098,064	C/G	—	likely benign
rs780590305	2:56,098,066	A/C	—	likely benign
rs774225644	2:56,098,139	C/G	—	uncertain significance
rs148823921	2:56,098,140	T/C	—	likely benign
rs762143333	2:56,098,141	G/A	—	uncertain significance
rs1668786537	2:56,098,143	T/C	—	likely benign
rs2465732650	2:56,098,144	G/A	—	uncertain significance
rs1668787289	2:56,098,154	A/G	—	uncertain significance
rs1263965407	2:56,098,155	G/C	—	likely benign
rs369049569	2:56,098,174	C/T	—	uncertain significance
rs2465732808	2:56,098,182	A/G	—	likely benign
rs765589888	2:56,098,187	G/A	—	uncertain significance
rs753001473	2:56,098,188	G/A	—	likely benign
rs1055074015	2:56,098,193	C/T	—	uncertain significance
rs1208704909	2:56,098,197	A/G	—	conflicting classifications of pathogenicity

Showing 100 of 331 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.