LAMA2

laminin subunit alpha 2

Summary

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants3,854 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376671532	6:129,203,947	G/A	—	likely benign
rs886061036	6:129,204,288	C/T	—	uncertain significance
rs111531732	6:129,204,292	G/A	—	likely benign
rs10080633	6:129,204,319	G/A	—	benign
rs764267708	6:129,204,388	A/G	—	uncertain significance
rs374403765	6:129,204,392	T/C	—	pathogenic
rs1247617026	6:129,204,395	C/G	—	uncertain significance
rs1775908232	6:129,204,396	G/A	—	likely benign
rs761472320	6:129,204,397	G/A	—	uncertain significance
rs2114357148	6:129,204,402	C/G	—	likely benign
rs367622987	6:129,204,403	G/A	—	conflicting classifications of pathogenicity
rs574296023	6:129,204,405	C/A	—	likely benign
rs1466207194	6:129,204,408	G/A	—	likely benign
rs751119966	6:129,204,414	C/A	—	likely benign
rs915657383	6:129,204,416	T/A	—	uncertain significance
rs754627719	6:129,204,418	C/T	—	likely benign
rs2482366909	6:129,204,419	T/A	—	uncertain significance
rs886061038	6:129,204,420	T/G	—	conflicting classifications of pathogenicity
rs730880252	6:129,204,422	T/C	missense variant	pathogenic
rs1324008369	6:129,204,432	C/T	—	likely benign
rs2114357335	6:129,204,435	A/G	—	likely benign
rs1433923964	6:129,204,437	G/A	—	uncertain significance
rs747860244	6:129,204,442	G/C	—	uncertain significance
rs1582593073	6:129,204,444	G/A	—	likely benign
rs771141152	6:129,204,447	C/T	—	likely benign
rs746372774	6:129,204,449	T/C	—	uncertain significance
rs2482367099	6:129,204,450	A/G	—	likely benign
rs886061039	6:129,204,451	C/T	—	pathogenic
rs1775917787	6:129,204,452	A/G	—	uncertain significance
rs2482367161	6:129,204,456	G/A	—	likely benign
rs2482367178	6:129,204,457	C/T	—	pathogenic
rs868408509	6:129,204,460	C/G	—	uncertain significance
rs2114357494	6:129,204,462	G/C	—	likely benign
rs145310035	6:129,204,464	C/T	—	conflicting classifications of pathogenicity
rs762102801	6:129,204,475	C/A	—	likely benign
rs2482367346	6:129,204,477	G/A	—	likely benign
rs750280423	6:129,204,488	C/A	—	uncertain significance
rs762858697	6:129,204,489	A/G	—	likely benign
rs374090280	6:129,204,490	C/T	—	uncertain significance
rs398123366	6:129,204,491	A/G	—	uncertain significance
rs751547531	6:129,204,492	T/C	—	likely benign
rs1360796756	6:129,204,496	C/T	—	pathogenic
rs2114357695	6:129,204,498	A/G	—	likely benign
rs2482367554	6:129,204,502	G/A	—	uncertain significance
rs398123367	6:129,204,503	G/A	splice region variant	pathogenic
rs1211322465	6:129,204,504	T/C	—	pathogenic
rs2114357759	6:129,204,509	T/G	—	likely benign
rs2114357769	6:129,204,510	C/A	—	likely benign
rs2114357779	6:129,204,511	G/A	—	likely benign
rs2482367644	6:129,204,512	A/T	—	likely benign
rs2482367670	6:129,204,517	T/C	—	likely benign
rs2482367715	6:129,204,521	C/T	—	likely benign
rs35108091	6:129,204,675	G/A	—	benign
rs78478996	6:129,204,735	T/A	—	benign
rs370958251	6:129,209,264	C/T	—	—
rs139280910	6:129,237,873	C/T	—	likely benign
rs4585583	6:129,280,157	A/G	—	—
rs9482968	6:129,308,281	T/G	—	—
rs3935350	6:129,344,832	C/T	intron variant	—
rs9388677	6:129,346,653	A/C	intron variant	—
rs7762560	6:129,353,629	A/G	intron variant	—
rs9402093	6:129,353,671	G/C	—	—
rs183864704	6:129,370,897	A/T	—	likely benign
rs77517667	6:129,370,975	A/G	—	benign
rs1311979480	6:129,371,049	T/A	—	likely benign
rs766929961	6:129,371,050	C/A	—	likely benign
rs1259189872	6:129,371,052	A/G	—	likely benign
rs2114774000	6:129,371,055	T/C	—	likely benign
rs1787872927	6:129,371,059	T/G	—	likely benign
rs2482237307	6:129,371,061	A/G	—	likely pathogenic
rs2482237317	6:129,371,062	G/T	—	likely pathogenic
rs752309873	6:129,371,064	T/C	—	likely benign
rs1484279221	6:129,371,070	C/T	—	likely benign
rs755805262	6:129,371,092	T/C	—	likely benign
rs1582941696	6:129,371,094	T/C	—	likely benign
rs2482237453	6:129,371,097	T/C	—	likely benign
rs191899712	6:129,371,099	C/T	—	conflicting classifications of pathogenicity
rs764781327	6:129,371,101	C/T	—	uncertain significance
rs1380745222	6:129,371,105	T/G	—	uncertain significance
rs1140366	6:129,371,106	C/T	—	benign
rs747469905	6:129,371,108	C/T	—	uncertain significance
rs1379023370	6:129,371,109	G/A	—	likely benign
rs781113853	6:129,371,114	A/G	—	uncertain significance
rs2482237570	6:129,371,118	A/T	—	likely benign
rs1731993495	6:129,371,122	T/C	—	uncertain significance
rs1787877068	6:129,371,124	T/C	—	likely benign
rs748303070	6:129,371,126	G/A	—	conflicting classifications of pathogenicity
rs2482237610	6:129,371,127	A/G	—	likely benign
rs923296045	6:129,371,129	A/T	—	uncertain significance
rs398123368	6:129,371,134	G/T	stop gained	pathogenic
rs2114774137	6:129,371,136	A/T	—	likely benign
rs1391191226	6:129,371,139	T/C	—	likely benign
rs1231305572	6:129,371,140	G/T	—	likely pathogenic
rs886061041	6:129,371,144	T/C	—	uncertain significance
rs1554206054	6:129,371,145	G/A	—	uncertain significance
rs1042843028	6:129,371,148	C/A	—	likely pathogenic
rs1787880910	6:129,371,158	G/A	—	uncertain significance
rs2482237781	6:129,371,163	A/G	—	likely benign
rs376658270	6:129,371,166	T/C	—	likely benign
rs767540192	6:129,371,169	C/G	—	likely benign

Showing 100 of 3,854 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.