LRPPRC

leucine rich pentatricopeptide repeat containing

Summary

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

Known Variants1,559 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886056040	2:44,113,363	G/C	—	uncertain significance
rs777772528	2:44,113,450	T/A	—	uncertain significance
rs886056041	2:44,113,462	T/C	—	uncertain significance
rs758080975	2:44,113,494	T/C	—	uncertain significance
rs866243257	2:44,113,509	T/G	—	uncertain significance
rs757205247	2:44,113,515	T/G	—	uncertain significance
rs189755235	2:44,113,547	T/C	—	uncertain significance
rs73924082	2:44,113,563	T/A	—	benign
rs1376980323	2:44,113,582	A/T	—	uncertain significance
rs771863074	2:44,113,640	G/T	—	uncertain significance
rs998481979	2:44,113,697	C/A	—	uncertain significance
rs7581308	2:44,113,698	G/T	—	uncertain significance
rs180886841	2:44,113,758	T/A	—	uncertain significance
rs541683193	2:44,113,778	A/G	—	likely benign
rs533572540	2:44,113,828	C/T	—	uncertain significance
rs886056042	2:44,113,844	C/A	—	uncertain significance
rs563480210	2:44,113,845	G/A	—	uncertain significance
rs147686285	2:44,113,867	G/A	—	uncertain significance
rs886056043	2:44,113,923	A/G	—	uncertain significance
rs886056044	2:44,113,933	T/G	—	uncertain significance
rs1670287619	2:44,113,987	G/C	—	uncertain significance
rs1670288640	2:44,114,020	C/T	—	uncertain significance
rs1670288685	2:44,114,022	G/A	—	uncertain significance
rs185767322	2:44,114,050	C/A	—	uncertain significance
rs774874630	2:44,114,054	C/T	—	uncertain significance
rs190524585	2:44,114,055	G/T	—	uncertain significance
rs1139250	2:44,114,074	G/A	—	uncertain significance
rs886056045	2:44,114,086	C/A	—	uncertain significance
rs1139249	2:44,114,087	G/C	—	uncertain significance
rs886056046	2:44,114,152	G/A	—	uncertain significance
rs372330583	2:44,114,155	C/T	—	uncertain significance
rs142436911	2:44,114,175	C/T	—	likely benign
rs186518252	2:44,114,176	G/A	—	uncertain significance
rs142253135	2:44,114,241	C/T	—	uncertain significance
rs371572374	2:44,114,281	T/C	—	uncertain significance
rs78163628	2:44,114,304	G/A	—	uncertain significance
rs750310194	2:44,114,367	C/T	—	uncertain significance
rs111381413	2:44,114,368	G/A	—	benign
rs1319087266	2:44,114,369	C/T	—	uncertain significance
rs1670301374	2:44,114,384	G/A	—	uncertain significance
rs75002669	2:44,114,396	C/G	—	benign
rs76970610	2:44,114,404	A/G	—	benign
rs562361644	2:44,114,587	G/C	—	uncertain significance
rs371325663	2:44,114,618	C/A	—	uncertain significance
rs79225555	2:44,114,651	C/G	—	benign
rs572718388	2:44,114,743	T/C	—	uncertain significance
rs17031753	2:44,114,914	T/C	—	benign
rs1670322978	2:44,115,004	G/C	—	uncertain significance
rs114517881	2:44,115,005	T/C	—	benign
rs533028399	2:44,115,072	G/A	—	uncertain significance
rs886056049	2:44,115,092	C/G	—	uncertain significance
rs886056050	2:44,115,149	G/A	—	uncertain significance
rs760992842	2:44,115,152	G/A	—	uncertain significance
rs183378286	2:44,115,162	C/A	—	uncertain significance
rs1136998	2:44,115,183	T/A	—	benign
rs553327890	2:44,115,205	C/A	—	uncertain significance
rs138559252	2:44,115,221	T/A	—	uncertain significance
rs886056051	2:44,115,254	G/A	—	uncertain significance
rs886056052	2:44,115,283	C/G	—	uncertain significance
rs1354819175	2:44,115,319	G/A	—	uncertain significance
rs187382374	2:44,115,330	G/C	—	uncertain significance
rs149268737	2:44,115,340	C/T	—	conflicting classifications of pathogenicity
rs144519599	2:44,115,396	G/A	—	uncertain significance
rs949524933	2:44,115,521	T/C	—	uncertain significance
rs997583952	2:44,115,629	C/T	—	uncertain significance
rs145232874	2:44,115,744	A/C	—	uncertain significance
rs139493671	2:44,115,747	A/C	—	uncertain significance
rs781702242	2:44,115,759	A/G	—	likely benign
rs886056053	2:44,115,768	G/C	—	uncertain significance
rs1572881190	2:44,115,778	A/G	—	likely benign
rs2104967477	2:44,115,784	T/C	—	likely benign
rs1418253068	2:44,115,791	C/T	—	uncertain significance
rs149693840	2:44,115,792	T/C	—	conflicting classifications of pathogenicity
rs539281841	2:44,115,801	A/G	—	likely benign
rs376269088	2:44,115,802	A/T	—	likely benign
rs1553387459	2:44,115,803	G/A	—	likely benign
rs759473064	2:44,115,804	G/A	—	likely benign
rs752794686	2:44,115,807	A/G	—	likely benign
rs2466330069	2:44,115,814	G/T	—	likely benign
rs1295668482	2:44,115,815	A/C	—	likely benign
rs10445885	2:44,116,100	C/T	—	benign
rs2955280	2:44,116,836	C/T	—	benign
rs1433030725	2:44,116,853	C/A	—	likely benign
rs775348145	2:44,116,856	A/G	—	likely benign
rs1366183471	2:44,116,857	A/G	—	likely benign
rs2466334706	2:44,116,858	T/G	—	likely benign
rs2104970206	2:44,116,866	T/C	—	likely benign
rs764204956	2:44,116,867	A/G	—	uncertain significance
rs1553388067	2:44,116,871	A/C	—	likely pathogenic
rs1475772376	2:44,116,872	C/T	—	likely pathogenic
rs2466335108	2:44,116,876	G/A	—	likely benign
rs767680021	2:44,116,889	G/C	—	uncertain significance
rs1173633095	2:44,116,890	G/A	—	uncertain significance
rs1670417863	2:44,116,891	G/T	—	likely benign
rs2104970337	2:44,116,894	A/G	—	likely benign
rs1161456389	2:44,116,903	A/G	—	likely benign
rs1670418842	2:44,116,912	C/G	—	likely benign
rs147302249	2:44,116,923	C/A	—	uncertain significance
rs148828179	2:44,116,924	G/C	—	pathogenic
rs746573924	2:44,116,927	A/G	—	likely benign

Showing 100 of 1,559 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.