CAV3

caveolin 3

Summary

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

Known Variants297 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2072581	3:8,775,153	T/C	—	benign
rs72546663	3:8,775,215	G/A	—	likely benign
rs147921048	3:8,775,220	G/A	—	likely benign
rs6793441	3:8,775,223	A/C	—	benign
rs237867	3:8,775,295	C/T	—	likely benign
rs2072582	3:8,775,379	T/G	—	benign
rs909895817	3:8,775,425	G/A	—	benign
rs918317	3:8,775,441	C/T	—	benign
rs2072583	3:8,775,457	A/G	—	benign
rs201062505	3:8,775,515	C/T	—	likely benign
rs374841789	3:8,775,516	C/T	—	benign
rs368151958	3:8,775,517	G/A	—	benign
rs116840771	3:8,775,526	G/A	—	conflicting classifications of pathogenicity
rs72546666	3:8,775,530	G/T	—	conflicting classifications of pathogenicity
rs917823409	3:8,775,532	A/G	—	benign
rs1203043550	3:8,775,534	C/T	—	likely benign
rs569240109	3:8,775,548	C/A	—	benign
rs772475990	3:8,775,561	C/T	—	conflicting classifications of pathogenicity
rs74377241	3:8,775,562	G/A	—	likely benign
rs375301072	3:8,775,567	T/C	—	uncertain significance
rs1060502318	3:8,775,568	—	—	pathogenic
rs1291499448	3:8,775,569	G/A	—	uncertain significance
rs2124977096	3:8,775,571	A/G	—	likely benign
rs1559639840	3:8,775,577	G/C	—	uncertain significance
rs1233979640	3:8,775,579	A/T	—	uncertain significance
rs2470043759	3:8,775,580	C/T	—	likely benign
rs1227645764	3:8,775,581	A/G	—	uncertain significance
rs2124977121	3:8,775,584	G/A	—	uncertain significance
rs1974763	3:8,775,589	T/C	—	likely benign
rs139786391	3:8,775,590	G/A	—	conflicting classifications of pathogenicity
rs587780883	3:8,775,592	G/A	—	likely benign
rs867194464	3:8,775,594	C/T	—	conflicting classifications of pathogenicity
rs1707652057	3:8,775,597	A/G	—	uncertain significance
rs1553613127	3:8,775,598	G/T	—	uncertain significance
rs796052171	3:8,775,599	A/T	missense variant	pathogenic
rs200562715	3:8,775,601	C/T	—	likely benign
rs121909281	3:8,775,602	G/A	missense variant	pathogenic
rs1707652520	3:8,775,608	G/A	—	uncertain significance
rs2470043849	3:8,775,610	T/C	—	likely benign
rs2470043852	3:8,775,612	T/C	—	uncertain significance
rs1553613132	3:8,775,613	C/T	—	likely benign
rs730880424	3:8,775,615	A/G	—	uncertain significance
rs775054657	3:8,775,616	C/T	—	likely benign
rs760170984	3:8,775,617	T/C	—	uncertain significance
rs963028152	3:8,775,618	G/A	—	uncertain significance
rs1182984115	3:8,775,619	C/A	—	conflicting classifications of pathogenicity
rs1707653132	3:8,775,620	A/G	—	uncertain significance
rs972788554	3:8,775,622	G/T	—	uncertain significance
rs1417709772	3:8,775,625	G/A	—	likely benign
rs763666060	3:8,775,627	T/C	—	uncertain significance
rs1707653769	3:8,775,633	T/C	—	uncertain significance
rs2470043905	3:8,775,634	G/A	—	likely benign
rs199476324	3:8,775,641	C/G	—	pathogenic
rs116840778	3:8,775,642	G/C	missense variant	pathogenic
rs116840782	3:8,775,646	C/A	missense variant	pathogenic
rs116840785	3:8,775,647	C/T	missense variant	uncertain significance
rs116840786	3:8,775,648	C/A	missense variant	uncertain significance
rs730880425	3:8,775,650	A/T	—	uncertain significance
rs753431407	3:8,775,651	A/G	—	uncertain significance
rs2470043952	3:8,775,653	A/T	—	uncertain significance
rs886042674	3:8,775,654	A/T	—	uncertain significance
rs2470043957	3:8,775,657	T/C	—	uncertain significance
rs1008642	3:8,775,661	C/G	missense variant	pathogenic
rs199476325	3:8,775,662	G/A	missense variant	pathogenic
rs2470043989	3:8,775,665	G/C	—	uncertain significance
rs374523166	3:8,775,671	G/C	—	uncertain significance
rs886039060	3:8,775,672	T/C	—	uncertain significance
rs116840787	3:8,775,678	T/C	—	pathogenic
rs1308236465	3:8,775,679	A/G	—	uncertain significance
rs1354029651	3:8,775,681	G/C	—	uncertain significance
rs987275270	3:8,775,684	C/G	—	likely benign
rs779911803	3:8,775,687	C/T	—	likely benign
rs1707656624	3:8,775,692	C/T	—	likely benign
rs748328757	3:8,775,696	C/T	—	likely benign
rs11922879	3:8,775,702	A/G	—	benign
rs151222758	3:8,775,724	G/A	—	benign
rs4686299	3:8,775,775	T/C	—	not provided
rs1558990	3:8,775,831	A/C	—	benign
rs1558991	3:8,775,847	C/G	—	benign
rs237872	3:8,780,438	C/T	intron variant	—
rs237880	3:8,783,505	A/C	—	—
rs138564258	3:8,784,199	G/A	—	benign
rs6788694	3:8,786,897	G/T	—	benign
rs79198901	3:8,786,939	T/C	—	likely benign
rs6777678	3:8,787,061	A/G	—	benign
rs13060135	3:8,787,123	G/T	—	benign
rs80340058	3:8,787,167	C/T	—	likely benign
rs57159780	3:8,787,189	G/C	—	benign
rs2124988175	3:8,787,195	C/T	—	likely benign
rs368367319	3:8,787,199	G/C	—	likely benign
rs1367760550	3:8,787,203	C/T	—	likely benign
rs1473004678	3:8,787,204	C/T	—	likely benign
rs1575477387	3:8,787,206	C/T	—	likely benign
rs1164773455	3:8,787,208	G/C	—	likely benign
rs143346209	3:8,787,210	A/T	—	uncertain significance
rs1559654217	3:8,787,211	G/A	—	uncertain significance
rs753959620	3:8,787,214	G/C	—	conflicting classifications of pathogenicity
rs13087941	3:8,787,220	C/T	—	likely benign
rs137901165	3:8,787,222	A/C	—	uncertain significance
rs1559654264	3:8,787,225	A/G	—	likely pathogenic

Showing 100 of 297 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.