SPG11

SPG11 vesicle trafficking associated, spatacsin

Summary

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Known Variants2,529 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1055703962	15:44,854,931	T/G	—	uncertain significance
rs886051175	15:44,854,999	G/A	—	uncertain significance
rs774245742	15:44,855,020	C/A	—	uncertain significance
rs116069609	15:44,855,076	T/C	—	likely benign
rs527843501	15:44,855,078	G/C	—	uncertain significance
rs373865108	15:44,855,316	C/T	—	likely benign
rs762374689	15:44,855,326	G/A	—	uncertain significance
rs765644977	15:44,855,327	C/T	—	uncertain significance
rs773503745	15:44,855,329	A/G	—	uncertain significance
rs1313297244	15:44,855,330	G/T	—	uncertain significance
rs566201722	15:44,855,331	C/T	—	uncertain significance
rs1595812352	15:44,855,333	T/G	—	uncertain significance
rs1445433088	15:44,855,334	G/A	—	uncertain significance
rs766552088	15:44,855,338	T/C	—	uncertain significance
rs535152071	15:44,855,340	T/C	—	likely benign
rs2505148108	15:44,855,344	C/T	—	uncertain significance
rs1051055977	15:44,855,349	A/G	—	likely benign
rs755064786	15:44,855,350	C/G	—	uncertain significance
rs2082228032	15:44,855,351	C/T	—	uncertain significance
rs2505148352	15:44,855,370	A/C	—	likely benign
rs1358019293	15:44,855,375	C/T	—	uncertain significance
rs778864726	15:44,855,376	A/C	—	uncertain significance
rs1300000065	15:44,855,381	C/T	—	uncertain significance
rs2140908025	15:44,855,383	A/C	—	uncertain significance
rs1229173974	15:44,855,385	T/G	—	uncertain significance
rs758146508	15:44,855,388	A/G	—	likely benign
rs779900397	15:44,855,393	A/T	—	conflicting classifications of pathogenicity
rs76116949	15:44,855,395	T/C	—	conflicting classifications of pathogenicity
rs2082229551	15:44,855,397	G/A	—	likely benign
rs1555445707	15:44,855,398	T/C	—	uncertain significance
rs371313584	15:44,855,402	C/T	—	conflicting classifications of pathogenicity
rs763259072	15:44,855,403	G/A	—	likely benign
rs774478465	15:44,855,406	T/A	—	likely benign
rs1060501177	15:44,855,407	G/T	—	uncertain significance
rs2140908107	15:44,855,411	A/G	—	likely benign
rs1363316884	15:44,855,414	T/C	—	uncertain significance
rs2505149098	15:44,855,420	A/T	—	uncertain significance
rs759801743	15:44,855,423	G/A	—	likely benign
rs2505149193	15:44,855,428	A/C	—	uncertain significance
rs767553029	15:44,855,429	C/T	—	uncertain significance
rs537351371	15:44,855,430	A/G	—	likely benign
rs1288255586	15:44,855,439	A/G	—	likely benign
rs904059359	15:44,855,443	G/A	—	uncertain significance
rs2505149451	15:44,855,446	A/G	—	uncertain significance
rs886051176	15:44,855,448	T/C	—	conflicting classifications of pathogenicity
rs139812925	15:44,855,449	A/G	—	uncertain significance
rs61732733	15:44,855,454	C/T	—	conflicting classifications of pathogenicity
rs779892720	15:44,855,462	T/G	—	uncertain significance
rs2140908205	15:44,855,464	T/C	—	uncertain significance
rs754598618	15:44,855,467	A/G	—	uncertain significance
rs888840813	15:44,855,474	T/A	—	uncertain significance
rs375508694	15:44,855,479	G/A	—	uncertain significance
rs747620875	15:44,855,483	G/A	—	likely benign
rs1321393268	15:44,855,485	T/C	—	uncertain significance
rs1406897126	15:44,855,487	A/T	—	uncertain significance
rs1567123486	15:44,855,489	G/T	—	uncertain significance
rs201918221	15:44,855,490	T/A	—	conflicting classifications of pathogenicity
rs1391196943	15:44,855,495	T/C	—	uncertain significance
rs1386550783	15:44,855,498	A/G	—	uncertain significance
rs1331584604	15:44,855,501	T/C	—	pathogenic
rs2082233766	15:44,855,505	T/C	—	conflicting classifications of pathogenicity
rs759692377	15:44,855,506	A/T	—	likely benign
rs1281133135	15:44,855,507	A/C	—	likely benign
rs201181492	15:44,855,509	G/A	—	likely benign
rs2082234518	15:44,855,516	A/C	—	likely benign
rs963111099	15:44,855,518	T/G	—	likely benign
rs1391440047	15:44,855,544	T/C	—	uncertain significance
rs8041448	15:44,856,443	G/A	—	likely benign
rs2505161481	15:44,856,726	G/C	—	likely benign
rs2505161542	15:44,856,731	C/T	—	likely benign
rs779150349	15:44,856,734	T/G	—	conflicting classifications of pathogenicity
rs1301085412	15:44,856,736	A/G	—	likely benign
rs772301782	15:44,856,737	A/G	—	likely benign
rs2082270638	15:44,856,738	T/A	—	likely benign
rs2505161682	15:44,856,739	A/G	—	uncertain significance
rs1555446078	15:44,856,746	T/A	—	pathogenic
rs747227352	15:44,856,750	G/A	—	conflicting classifications of pathogenicity
rs1595815245	15:44,856,751	G/T	—	uncertain significance
rs2082271089	15:44,856,754	A/G	—	uncertain significance
rs369467143	15:44,856,758	C/A	—	pathogenic
rs1398977843	15:44,856,759	T/C	—	likely benign
rs150571352	15:44,856,764	A/G	—	conflicting classifications of pathogenicity
rs935591045	15:44,856,777	T/C	—	likely benign
rs1595815286	15:44,856,780	T/C	—	likely benign
rs762984907	15:44,856,781	A/T	stop gained	pathogenic
rs1595815301	15:44,856,784	C/T	—	uncertain significance
rs1373557546	15:44,856,785	T/G	—	likely benign
rs551095608	15:44,856,789	C/A	—	uncertain significance
rs1397432412	15:44,856,791	G/A	—	pathogenic
rs2505162341	15:44,856,798	T/C	—	likely benign
rs1312904222	15:44,856,804	C/T	—	likely benign
rs373463137	15:44,856,817	T/G	—	uncertain significance
rs2505162613	15:44,856,821	C/G	—	uncertain significance
rs2505162645	15:44,856,825	A/G	—	likely benign
rs139334167	15:44,856,827	G/A	—	conflicting classifications of pathogenicity
rs2505162709	15:44,856,828	A/G	—	likely benign
rs757736340	15:44,856,832	A/G	—	uncertain significance
rs746329317	15:44,856,840	G/T	—	pathogenic
rs149711747	15:44,856,842	A/G	—	uncertain significance
rs2505162867	15:44,856,845	A/G	—	likely benign

Showing 100 of 2,529 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.