LAMA5

laminin subunit alpha 5

Summary

This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]

Known Variants1,509 total

rsidPosition (GRCh37)AllelesClassClinVar
rs318429320:60,884,339A/G—benign
rs53534068020:60,884,392C/A—uncertain significance
rs55366014320:60,884,398G/A—likely benign
rs36866025120:60,884,402G/A—likely benign
rs132746062620:60,884,412T/C—uncertain significance
rs20033058220:60,884,413G/A—benign
rs13846851920:60,884,427C/T—likely benign
rs104866538520:60,884,434C/T—likely benign
rs140440557320:60,884,439C/G—uncertain significance
rs54192855820:60,884,447G/C—uncertain significance
rs76823915320:60,884,451T/C—uncertain significance
rs37626380320:60,884,454C/T—likely benign
rs90653750720:60,884,455G/A—likely benign
rs20213040720:60,884,466G/A—conflicting classifications of pathogenicity
rs138674931520:60,884,471A/G—uncertain significance
rs11530672020:60,884,473C/T—benign
rs7717213120:60,884,483C/T—benign
rs52910093520:60,884,494G/A—likely benign
rs37201007020:60,884,502C/T—uncertain significance
rs76954178620:60,884,503G/A—likely benign
rs160125942020:60,884,512G/A—likely benign
rs147614642420:60,884,514G/A—uncertain significance
rs77445671120:60,884,520C/T—likely benign
rs76079794720:60,884,521G/A—benign
rs138610122620:60,884,529G/A—uncertain significance
rs37637618520:60,884,543G/A—likely benign
rs614302020:60,884,651T/G—benign
rs37442462320:60,884,763C/T—likely benign
rs36893916120:60,884,764G/A—likely benign
rs198599236520:60,884,800T/C—likely benign
rs251662415220:60,884,801G/A—likely benign
rs251662418020:60,884,803G/A—likely benign
rs76786625920:60,884,819G/A—uncertain significance
rs13823421720:60,884,827G/A—benign
rs77740077420:60,884,828G/A—uncertain significance
rs75696786520:60,884,835C/T—uncertain significance
rs77871967120:60,884,836G/A—likely benign
rs14315824020:60,884,843T/C—likely benign
rs37057751320:60,884,851C/T—likely benign
rs14019706720:60,884,852G/A—benign
rs20052557920:60,884,853C/T—conflicting classifications of pathogenicity
rs26760604320:60,884,856C/G—uncertain significance
rs125304689420:60,884,858A/G—uncertain significance
rs20159111120:60,884,860C/T—likely benign
rs76494117220:60,884,868G/A—conflicting classifications of pathogenicity
rs74684249420:60,884,877T/A—uncertain significance
rs7710694820:60,884,880C/G—benign
rs11200835620:60,884,910C/T—benign
rs76910980720:60,885,046G/A—uncertain significance
rs7785082720:60,885,047C/A—conflicting classifications of pathogenicity
rs37033386720:60,885,052C/T—uncertain significance
rs77270871720:60,885,053G/C—uncertain significance
rs76600462120:60,885,064C/T—uncertain significance
rs14710831220:60,885,075C/T—likely benign
rs75046137520:60,885,085C/T—uncertain significance
rs37467940420:60,885,086G/C—uncertain significance
rs14434284420:60,885,102G/A—likely benign
rs77031733820:60,885,116C/T—uncertain significance
rs77390048320:60,885,117G/A—likely benign
rs4131083120:60,885,119C/A—likely benign
rs36813464520:60,885,123C/T—likely benign
rs76404543020:60,885,125C/T—uncertain significance
rs14629255120:60,885,127C/T—benign
rs37571805520:60,885,128G/A—conflicting classifications of pathogenicity
rs54450124420:60,885,141G/T—likely benign
rs237912920:60,885,142C/A—benign
rs74849490720:60,885,143G/A—likely benign
rs20034952920:60,885,149G/T—likely benign
rs54520195520:60,885,151A/G—likely benign
rs74972823320:60,885,214G/A—likely benign
rs13950200020:60,885,242C/T—conflicting classifications of pathogenicity
rs76841793920:60,885,243G/A—likely benign
rs101974532320:60,885,265G/T—uncertain significance
rs130260674120:60,885,267G/A—likely benign
rs76302346620:60,885,269G/T—uncertain significance
rs14421966320:60,885,271G/A—conflicting classifications of pathogenicity
rs75628632720:60,885,274C/T—likely benign
rs14651686520:60,885,275G/A—likely benign
rs53364242420:60,885,280T/C—benign
rs75764526220:60,885,287A/C—uncertain significance
rs74634934520:60,885,296T/G—uncertain significance
rs74652881420:60,885,303G/A—likely benign
rs198608482620:60,885,322A/G—uncertain significance
rs76417740220:60,885,340A/C—uncertain significance
rs251662931620:60,885,342A/G—likely benign
rs214602801120:60,885,351T/A—likely benign
rs75085151520:60,885,352G/A—uncertain significance
rs4130720320:60,885,362A/G—benign
rs198608981820:60,885,363G/A—likely benign
rs14147811620:60,885,365G/A—likely benign
rs54526332220:60,885,372G/A—uncertain significance
rs4131003220:60,885,428A/C—benign
rs94489720:60,885,448A/G—benign
rs156888752920:60,885,483A/G—uncertain significance
rs77345288220:60,885,493C/T—uncertain significance
rs37694982320:60,885,529C/T—uncertain significance
rs77998579120:60,885,554C/T—uncertain significance
rs53344106220:60,885,559G/A—uncertain significance
rs77112670920:60,885,565G/A—uncertain significance
rs20135647820:60,885,611G/A—likely benign

Showing 100 of 1,509 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.