A2ML1

alpha-2-macroglobulin like 1

Summary

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Known Variants1,342 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1104743212:8,974,815C/T—benign
rs14168834712:8,974,831C/T—likely benign
rs78143539612:8,975,198C/G—likely benign
rs11261066812:8,975,206T/A—benign
rs36962567912:8,975,232T/C—likely benign
rs15104419412:8,975,256T/A—likely benign
rs140994455412:8,975,257C/T—likely pathogenic
rs141956288912:8,975,260C/G—uncertain significance
rs52943134912:8,975,268A/G—likely benign
rs37715654412:8,975,273T/C—uncertain significance
rs213669129112:8,975,276T/A—uncertain significance
rs194278019512:8,975,283A/G—likely benign
rs194278060112:8,975,291C/A—uncertain significance
rs139126922112:8,975,297C/A—uncertain significance
rs253916942812:8,975,299G/A—uncertain significance
rs172080054712:8,975,302G/A—conflicting classifications of pathogenicity
rs74952002212:8,975,308C/G—conflicting classifications of pathogenicity
rs77108709712:8,975,309C/T—uncertain significance
rs20076417412:8,975,310G/C—uncertain significance
rs103030164212:8,975,318T/C—likely benign
rs729769012:8,975,605A/G—benign
rs37019987212:8,975,764T/G—likely benign
rs20000771012:8,975,774A/G—likely benign
rs75052454912:8,975,783A/G—conflicting classifications of pathogenicity
rs76167114212:8,975,784C/G—uncertain significance
rs118523024712:8,975,785C/G—uncertain significance
rs77290695212:8,975,788G/A—uncertain significance
rs121366957512:8,975,789T/C—uncertain significance
rs213669392912:8,975,799A/T—likely benign
rs20200642212:8,975,801C/A—uncertain significance
rs19307908712:8,975,803C/T—uncertain significance
rs75664016312:8,975,804G/A—conflicting classifications of pathogenicity
rs253917167312:8,975,812T/G—uncertain significance
rs20118502512:8,975,820C/T—likely benign
rs124282184312:8,975,821G/A—uncertain significance
rs194280340812:8,975,825A/G—uncertain significance
rs118502423912:8,975,830G/A—uncertain significance
rs93381149212:8,975,833T/G—uncertain significance
rs253917179912:8,975,841C/T—likely benign
rs105188139912:8,975,842C/G—uncertain significance
rs77436068312:8,975,843T/C—uncertain significance
rs140300343212:8,975,844G/C—likely benign
rs139722691012:8,975,848C/T—uncertain significance
rs75720077112:8,975,852G/A—conflicting classifications of pathogenicity
rs37439558012:8,975,854T/C—uncertain significance
rs77866972212:8,975,856C/G—uncertain significance
rs129597475212:8,975,858G/C—uncertain significance
rs253917190412:8,975,863G/T—uncertain significance
rs7914929312:8,975,873C/T—uncertain significance
rs76737046112:8,975,874G/A—likely benign
rs99902823412:8,975,879C/T—uncertain significance
rs253917201412:8,975,884G/A—uncertain significance
rs93945158912:8,975,886G/T—uncertain significance
rs1779297412:8,975,901C/T—benign
rs18551927212:8,975,911C/T—likely benign
rs19047970812:8,975,915A/T—benign
rs37156496512:8,975,916A/G—likely benign
rs74722541212:8,975,931G/A—likely benign
rs253917223812:8,975,933A/G—uncertain significance
rs7765721412:8,975,936G/C—conflicting classifications of pathogenicity
rs119362343412:8,975,938C/A—uncertain significance
rs55713605512:8,975,940C/T—likely benign
rs78134615412:8,975,946T/C—likely benign
rs142198937112:8,975,948G/T—uncertain significance
rs7931554712:8,975,955C/T—likely benign
rs253917238112:8,975,966G/A—uncertain significance
rs7964980612:8,976,100A/G—likely benign
rs14169136112:8,976,110A/G—likely benign
rs136634070112:8,976,304T/C—likely benign
rs253917372812:8,976,310G/C—likely benign
rs159209480012:8,976,313C/G—uncertain significance
rs74916250612:8,976,319C/G—uncertain significance
rs145193364312:8,976,320C/T—uncertain significance
rs76620182512:8,976,325C/T—uncertain significance
rs77860789812:8,976,326C/T—uncertain significance
rs36917481512:8,976,338C/T—uncertain significance
rs77166354512:8,976,340G/A—uncertain significance
rs77501147512:8,976,346G/T—conflicting classifications of pathogenicity
rs37274381312:8,976,348G/T—likely benign
rs18504685412:8,976,351C/G—likely benign
rs92995832612:8,976,357C/A—likely benign
rs19970157112:8,976,358C/T—uncertain significance
rs76344345412:8,976,359G/A—uncertain significance
rs76685521512:8,976,361G/A—uncertain significance
rs77480005512:8,976,365C/T—uncertain significance
rs75986365612:8,976,366G/A—likely benign
rs253917420412:8,976,382A/G—uncertain significance
rs20136439612:8,976,401A/G—uncertain significance
rs75372136912:8,976,404A/G—uncertain significance
rs253917441312:8,976,406G/T—uncertain significance
rs159209509112:8,976,409C/G—uncertain significance
rs213669788412:8,976,411A/C—likely benign
rs77869781212:8,976,415C/G—uncertain significance
rs20067197112:8,976,426G/C—likely benign
rs37264396312:8,976,429C/T—likely benign
rs76804839412:8,976,430G/A—uncertain significance
rs253917460112:8,976,432C/T—likely benign
rs77614248612:8,976,443A/G—uncertain significance
rs37748484912:8,976,444G/T—uncertain significance
rs194283231012:8,976,445A/G—uncertain significance

Showing 100 of 1,342 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.