OBSL1

obscurin like cytoskeletal adaptor 1

Summary

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

Known Variants949 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13023533	2:220,414,019	T/C	synonymous variant	—
rs184252908	2:220,415,568	C/T	—	likely benign
rs1043582	2:220,415,646	T/C	—	benign
rs3731918	2:220,415,717	G/A	—	benign
rs6745782	2:220,415,752	C/T	—	benign
rs6717394	2:220,415,834	A/G	—	benign
rs6761575	2:220,416,164	T/C	—	benign
rs779577810	2:220,416,250	C/G	—	uncertain significance
rs3795991	2:220,416,258	C/T	—	likely benign
rs886055656	2:220,416,277	C/T	—	uncertain significance
rs1474277264	2:220,416,278	T/C	—	uncertain significance
rs747903787	2:220,416,281	C/T	—	uncertain significance
rs373603020	2:220,416,288	G/C	—	likely benign
rs368898845	2:220,416,290	C/T	—	uncertain significance
rs1352955079	2:220,416,293	G/C	—	uncertain significance
rs757557849	2:220,416,322	C/T	—	uncertain significance
rs370898052	2:220,416,341	G/A	—	conflicting classifications of pathogenicity
rs2546180129	2:220,416,345	G/A	—	likely benign
rs958148655	2:220,416,346	T/C	—	uncertain significance
rs2106004705	2:220,416,361	C/G	—	uncertain significance
rs777883875	2:220,416,370	T/C	—	uncertain significance
rs1202968018	2:220,416,376	T/C	—	uncertain significance
rs374315640	2:220,416,384	C/T	—	likely benign
rs762088079	2:220,416,419	C/A	—	uncertain significance
rs202121208	2:220,416,420	G/T	—	uncertain significance
rs1373001473	2:220,416,422	G/A	—	uncertain significance
rs201113762	2:220,416,447	C/T	—	conflicting classifications of pathogenicity
rs2546180993	2:220,416,465	G/A	—	likely benign
rs1387142202	2:220,416,477	G/A	—	likely benign
rs772337823	2:220,416,481	T/G	—	uncertain significance
rs760986158	2:220,416,488	G/A	—	uncertain significance
rs199592039	2:220,416,493	G/A	—	uncertain significance
rs367837303	2:220,416,528	T/G	—	uncertain significance
rs201568270	2:220,416,530	G/A	—	likely benign
rs2546181612	2:220,416,535	C/T	—	likely benign
rs4672931	2:220,416,570	C/T	—	benign
rs4672932	2:220,416,591	C/T	—	benign
rs4672933	2:220,416,803	A/T	—	benign
rs755935565	2:220,416,823	C/T	—	likely benign
rs2546183664	2:220,416,835	C/G	—	uncertain significance
rs537840150	2:220,416,843	C/G	—	uncertain significance
rs886055657	2:220,416,847	T/A	—	uncertain significance
rs1298068212	2:220,416,859	C/G	—	uncertain significance
rs746139824	2:220,416,862	G/C	—	likely benign
rs1053639516	2:220,416,892	G/A	—	likely benign
rs766231551	2:220,416,906	G/A	—	uncertain significance
rs1695666095	2:220,416,922	C/G	—	likely benign
rs746041893	2:220,416,935	T/C	—	uncertain significance
rs34490902	2:220,416,942	G/C	—	benign
rs769067262	2:220,416,949	G/C	—	likely benign
rs560438428	2:220,416,950	G/C	—	uncertain significance
rs4672934	2:220,416,967	T/C	—	benign
rs60549465	2:220,417,228	G/T	—	benign
rs377219196	2:220,417,246	A/C	—	likely benign
rs1238592757	2:220,417,247	G/A	—	likely benign
rs59332477	2:220,417,266	C/T	—	benign
rs776415153	2:220,417,274	G/C	—	likely benign
rs1375594329	2:220,417,285	C/T	—	uncertain significance
rs373081802	2:220,417,286	G/A	—	benign
rs1463986588	2:220,417,291	T/C	—	uncertain significance
rs886055658	2:220,417,296	G/A	—	uncertain significance
rs376047463	2:220,417,312	C/T	—	uncertain significance
rs1199195404	2:220,417,319	C/A	—	likely benign
rs549049375	2:220,417,321	C/T	—	uncertain significance
rs755217589	2:220,417,323	G/A	—	conflicting classifications of pathogenicity
rs371141615	2:220,417,337	C/A	—	conflicting classifications of pathogenicity
rs1695712895	2:220,417,343	G/C	—	likely benign
rs2106009398	2:220,417,355	C/T	—	likely benign
rs199594182	2:220,417,356	G/T	—	conflicting classifications of pathogenicity
rs772539285	2:220,417,357	T/C	—	uncertain significance
rs181520135	2:220,417,364	G/T	—	benign
rs557696187	2:220,417,367	G/A	—	likely benign
rs958942749	2:220,417,375	G/A	—	uncertain significance
rs2106009564	2:220,417,380	C/T	—	uncertain significance
rs769360822	2:220,417,383	A/G	—	conflicting classifications of pathogenicity
rs775246985	2:220,417,386	G/A	—	uncertain significance
rs1369924352	2:220,417,389	C/G	—	uncertain significance
rs762632990	2:220,417,390	G/A	—	uncertain significance
rs1163999625	2:220,417,392	A/T	—	uncertain significance
rs1418143217	2:220,417,397	G/T	—	likely benign
rs766398486	2:220,417,409	C/T	—	likely benign
rs1211547785	2:220,417,412	A/C	—	likely benign
rs1036705483	2:220,417,414	T/C	—	uncertain significance
rs1695736598	2:220,417,572	A/G	—	likely benign
rs2546190816	2:220,417,590	C/G	—	uncertain significance
rs1695739708	2:220,417,619	C/G	—	uncertain significance
rs886055659	2:220,417,635	C/T	—	uncertain significance
rs1044064113	2:220,417,650	C/T	—	uncertain significance
rs1456008795	2:220,417,653	C/T	—	uncertain significance
rs1695742218	2:220,417,654	G/A	—	likely benign
rs1705029	2:220,417,674	G/T	—	likely benign
rs757858688	2:220,417,676	A/G	—	uncertain significance
rs1479080818	2:220,417,691	C/A	—	uncertain significance
rs1361973159	2:220,417,705	C/T	—	likely benign
rs769394823	2:220,417,721	G/C	—	uncertain significance
rs965904763	2:220,417,722	G/T	—	uncertain significance
rs2106011215	2:220,417,729	C/T	—	likely benign
rs2106011280	2:220,417,742	C/G	—	uncertain significance
rs748975251	2:220,417,752	G/A	—	likely benign
rs6436157	2:220,417,911	T/C	—	benign

Showing 100 of 949 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.