LMNA

lamin A/C

Summary

The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]

Known Variants1,415 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7542186	1:156,061,222	G/C	intron variant	—
rs886045354	1:156,084,484	C/T	—	uncertain significance
rs886045355	1:156,084,485	C/A	—	uncertain significance
rs188625872	1:156,084,487	C/T	—	conflicting classifications of pathogenicity
rs886045356	1:156,084,500	T/C	—	uncertain significance
rs886045357	1:156,084,527	C/A	—	uncertain significance
rs2102816121	1:156,084,562	C/A	—	benign
rs1263529375	1:156,084,563	C/A	—	benign
rs886045358	1:156,084,568	C/A	—	uncertain significance
rs886045359	1:156,084,572	T/C	—	uncertain significance
rs80356803	1:156,084,582	T/C	—	likely benign
rs886045360	1:156,084,601	G/T	—	uncertain significance
rs904723441	1:156,084,612	G/C	—	benign
rs115800510	1:156,084,622	G/T	—	likely benign
rs886045361	1:156,084,648	C/A	—	uncertain significance
rs1185731069	1:156,084,666	T/A	—	uncertain significance
rs761922735	1:156,084,668	C/T	—	likely benign
rs1404811179	1:156,084,682	C/T	—	likely benign
rs1352763260	1:156,084,696	C/T	—	uncertain significance
rs1553261811	1:156,084,698	A/T	—	uncertain significance
rs758887740	1:156,084,699	A/G	—	conflicting classifications of pathogenicity
rs1572331643	1:156,084,704	C/T	—	uncertain significance
rs886045362	1:156,084,705	C/A	—	uncertain significance
rs1205781706	1:156,084,706	G/A	—	uncertain significance
rs886043355	1:156,084,709	C/A	—	uncertain significance
rs2102816719	1:156,084,710	A/T	—	pathogenic
rs2527828780	1:156,084,711	T/A	—	pathogenic
rs794728598	1:156,084,712	G/C	missense variant	pathogenic
rs1558115754	1:156,084,713	G/T	—	pathogenic
rs1183004393	1:156,084,716	A/G	—	uncertain significance
rs1235021953	1:156,084,717	C/A	—	uncertain significance
rs1477323839	1:156,084,719	C/T	—	uncertain significance
rs267607620	1:156,084,720	C/G	—	pathogenic
rs369823958	1:156,084,721	G/A	—	likely benign
rs1572331734	1:156,084,724	C/T	—	likely benign
rs61046466	1:156,084,725	C/T	stop gained	pathogenic
rs1397676761	1:156,084,728	C/T	—	uncertain significance
rs751916168	1:156,084,729	G/A	—	uncertain significance
rs2102816901	1:156,084,730	G/C	—	likely benign
rs1649697783	1:156,084,731	C/G	—	uncertain significance
rs1329278578	1:156,084,732	G/A	—	uncertain significance
rs1337375663	1:156,084,733	C/A	—	likely benign
rs2527829229	1:156,084,734	G/A	—	uncertain significance
rs2527829303	1:156,084,737	A/C	—	likely pathogenic
rs57077886	1:156,084,738	C/T	missense variant	pathogenic
rs755465323	1:156,084,740	C/T	—	uncertain significance
rs1649700040	1:156,084,741	G/T	—	uncertain significance
rs1649700208	1:156,084,746	G/A	—	uncertain significance
rs747663457	1:156,084,748	G/A	—	likely benign
rs755617982	1:156,084,749	G/A	—	uncertain significance
rs1256334293	1:156,084,750	C/A	—	uncertain significance
rs777460187	1:156,084,751	G/A	—	likely benign
rs2102817088	1:156,084,752	C/T	—	pathogenic
rs748918487	1:156,084,753	A/C	—	uncertain significance
rs868507025	1:156,084,755	G/T	—	uncertain significance
rs770799870	1:156,084,756	C/A	—	uncertain significance
rs11549668	1:156,084,760	T/C	—	likely benign
rs2527829852	1:156,084,764	A/T	—	uncertain significance
rs1572331878	1:156,084,766	T/C	—	likely benign
rs2527829907	1:156,084,767	C/T	—	uncertain significance
rs1553261858	1:156,084,768	C/T	—	conflicting classifications of pathogenicity
rs1649704361	1:156,084,771	T/C	—	uncertain significance
rs794728599	1:156,084,773	T/G	missense variant	pathogenic
rs1016767319	1:156,084,774	C/T	—	conflicting classifications of pathogenicity
rs886043729	1:156,084,775	G/T	—	uncertain significance
rs1195524446	1:156,084,780	C/G	—	uncertain significance
rs1572331957	1:156,084,781	C/T	—	likely benign
rs58327533	1:156,084,782	C/G	missense variant	pathogenic
rs61578124	1:156,084,783	G/C	—	likely pathogenic
rs80356804	1:156,084,784	C/T	—	conflicting classifications of pathogenicity
rs1302425397	1:156,084,785	A/G	—	uncertain significance
rs794728600	1:156,084,786	T/C	missense variant	uncertain significance
rs373721390	1:156,084,787	C/T	—	conflicting classifications of pathogenicity
rs863225270	1:156,084,789	C/T	—	likely pathogenic
rs59914820	1:156,084,791	C/T	missense variant	pathogenic
rs886043109	1:156,084,792	G/A	—	pathogenic
rs2527830495	1:156,084,796	G/T	—	likely benign
rs2102817413	1:156,084,797	C/G	—	uncertain significance
rs2527830531	1:156,084,798	A/C	—	uncertain significance
rs1325971304	1:156,084,799	G/A	—	likely benign
rs1228406418	1:156,084,800	G/A	—	pathogenic
rs1649709575	1:156,084,801	A/G	—	pathogenic
rs878855235	1:156,084,802	G/A	—	likely benign
rs1553261891	1:156,084,803	A/G	—	pathogenic
rs2527830691	1:156,084,804	A/C	—	pathogenic
rs775429079	1:156,084,805	G/A	—	likely benign
rs2527830747	1:156,084,806	G/C	—	uncertain significance
rs267607614	1:156,084,807	A/G	—	pathogenic
rs57966821	1:156,084,808	G/C	—	likely pathogenic
rs886042491	1:156,084,809	G/A	—	uncertain significance
rs2527830824	1:156,084,811	C/T	—	likely benign
rs56694480	1:156,084,812	C/T	—	likely benign
rs267607644	1:156,084,813	T/C	—	pathogenic
rs267607601	1:156,084,815	C/T	—	not provided
rs2527830896	1:156,084,816	A/C	—	uncertain significance
rs2102817523	1:156,084,817	G/T	—	uncertain significance
rs1354642495	1:156,084,818	G/A	—	uncertain significance
rs2527830941	1:156,084,819	A/G	—	uncertain significance
rs886038906	1:156,084,820	G/A	—	conflicting classifications of pathogenicity
rs2102817550	1:156,084,821	C/G	—	likely pathogenic

Showing 100 of 1,415 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.