MCOLN1

mucolipin TRP cation channel 1

Summary

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

Known Variants680 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113092637	19:7,587,308	C/G	—	likely benign
rs10426498	19:7,587,373	G/A	—	benign
rs2022509435	19:7,587,535	T/G	—	uncertain significance
rs886054691	19:7,587,549	G/T	—	uncertain significance
rs886054692	19:7,587,550	A/T	—	uncertain significance
rs2146019165	19:7,587,642	A/G	—	likely benign
rs2146019172	19:7,587,645	C/T	—	likely benign
rs1285448813	19:7,587,647	C/A	—	uncertain significance
rs2022512724	19:7,587,651	G/C	—	likely benign
rs61736595	19:7,587,652	G/T	—	conflicting classifications of pathogenicity
rs2146019192	19:7,587,653	G/T	—	uncertain significance
rs1348144589	19:7,587,654	T/G	—	likely benign
rs1046965220	19:7,587,657	G/T	—	likely benign
rs886527724	19:7,587,660	C/T	—	conflicting classifications of pathogenicity
rs953773169	19:7,587,665	C/T	—	uncertain significance
rs1057516246	19:7,587,668	G/A	—	pathogenic
rs2022513285	19:7,587,676	G/A	—	likely benign
rs2512466237	19:7,587,677	C/T	—	likely benign
rs2512466247	19:7,587,680	G/A	—	likely benign
rs2512466252	19:7,587,681	C/T	—	likely benign
rs2512466257	19:7,587,686	C/T	—	likely benign
rs2022513510	19:7,587,687	C/T	—	likely benign
rs116662144	19:7,587,796	G/A	—	likely benign
rs115208233	19:7,589,061	C/G	downstream gene variant	—
rs1432627146	19:7,589,830	C/A	—	likely benign
rs2512468027	19:7,589,832	C/T	—	likely benign
rs771483737	19:7,589,833	T/G	—	likely benign
rs1372906524	19:7,589,835	C/A	—	conflicting classifications of pathogenicity
rs371191277	19:7,589,837	A/G	—	benign
rs2512468048	19:7,589,838	T/C	—	likely benign
rs2512468052	19:7,589,840	C/T	—	likely benign
rs2512468054	19:7,589,842	C/G	—	likely benign
rs1555741545	19:7,589,845	A/G	—	likely pathogenic
rs2146021137	19:7,589,846	G/C	—	likely pathogenic
rs148187755	19:7,589,851	C/T	—	likely benign
rs771709900	19:7,589,852	G/A	—	uncertain significance
rs2512468069	19:7,589,854	G/A	—	likely benign
rs775040894	19:7,589,855	C/A	—	likely benign
rs200048852	19:7,589,856	G/A	—	uncertain significance
rs2512468075	19:7,589,860	T/G	—	likely benign
rs1342326873	19:7,589,861	C/T	—	likely benign
rs776627554	19:7,589,863	G/C	—	likely benign
rs1334031081	19:7,589,866	C/T	—	likely benign
rs1246719361	19:7,589,869	C/T	—	likely benign
rs765306710	19:7,589,872	C/T	—	likely benign
rs202247664	19:7,589,875	C/T	—	conflicting classifications of pathogenicity
rs756440792	19:7,589,876	G/A	—	conflicting classifications of pathogenicity
rs2146021189	19:7,589,877	G/A	—	uncertain significance
rs754263664	19:7,589,878	G/A	—	likely benign
rs757727084	19:7,589,880	A/G	—	uncertain significance
rs2146021205	19:7,589,881	T/G	—	pathogenic
rs141168886	19:7,589,886	C/A	—	conflicting classifications of pathogenicity
rs372794201	19:7,589,892	C/T	—	conflicting classifications of pathogenicity
rs746629838	19:7,589,893	G/A	—	conflicting classifications of pathogenicity
rs372370104	19:7,589,896	G/A	—	likely benign
rs200297215	19:7,589,904	C/T	—	uncertain significance
rs773313990	19:7,589,905	G/A	—	likely benign
rs1599252290	19:7,589,908	C/A	—	likely benign
rs369851101	19:7,589,913	C/T	—	uncertain significance
rs760801246	19:7,589,914	G/A	—	likely benign
rs2512468148	19:7,589,915	A/C	—	uncertain significance
rs2512468155	19:7,589,920	C/A	—	likely benign
rs757653601	19:7,589,929	G/A	—	likely benign
rs750910015	19:7,589,932	A/G	—	likely benign
rs768172824	19:7,589,935	C/T	—	likely benign
rs2512468195	19:7,589,944	T/C	—	likely benign
rs2512468203	19:7,589,947	T/C	—	likely benign
rs775399085	19:7,589,950	C/G	—	likely benign
rs893292707	19:7,589,952	A/G	—	uncertain significance
rs2512468209	19:7,589,956	C/G	—	likely pathogenic
rs1057120683	19:7,589,959	T/C	—	likely benign
rs764263944	19:7,589,969	C/G	—	uncertain significance
rs776845391	19:7,589,974	C/A	—	pathogenic
rs762111761	19:7,589,975	G/A	—	uncertain significance
rs765577483	19:7,589,984	C/T	—	pathogenic
rs146187044	19:7,589,992	G/A	—	conflicting classifications of pathogenicity
rs754565497	19:7,589,998	C/G	—	likely benign
rs1182165362	19:7,590,004	C/T	—	conflicting classifications of pathogenicity
rs2022550603	19:7,590,007	C/A	—	pathogenic
rs2512468260	19:7,590,010	G/A	—	likely benign
rs2512468262	19:7,590,011	C/G	—	uncertain significance
rs747815510	19:7,590,013	G/C	—	likely benign
rs1481445686	19:7,590,019	G/A	—	likely benign
rs2512468269	19:7,590,022	A/G	—	likely benign
rs2022550937	19:7,590,025	G/A	—	likely benign
rs201157863	19:7,590,028	C/T	—	conflicting classifications of pathogenicity
rs369176493	19:7,590,031	G/A	—	conflicting classifications of pathogenicity
rs1347383629	19:7,590,034	C/T	—	likely benign
rs770748705	19:7,590,037	G/A	—	likely benign
rs2512468286	19:7,590,040	G/A	—	likely benign
rs1441079209	19:7,590,043	C/T	—	likely benign
rs138101272	19:7,590,045	C/T	—	uncertain significance
rs961311202	19:7,590,046	G/A	—	likely benign
rs373423915	19:7,590,047	G/T	—	uncertain significance
rs1599252438	19:7,590,049	G/A	—	likely benign
rs797044832	19:7,590,050	C/T	stop gained	—
rs1568397947	19:7,590,057	G/A	—	uncertain significance
rs999063846	19:7,590,067	G/A	—	likely benign
rs1323384246	19:7,590,068	C/T	—	likely benign
rs746997628	19:7,590,070	G/A	—	likely benign

Showing 100 of 680 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.