MMP13

matrix metallopeptidase 13

Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

Known Variants256 total

rsidPosition (GRCh37)AllelesClassClinVar
rs114707111:102,813,274T/G——
rs1122548811:102,813,624A/C—benign
rs18851120911:102,813,776T/G—conflicting classifications of pathogenicity
rs118448920111:102,813,824G/T—uncertain significance
rs88604755011:102,813,893A/G—uncertain significance
rs186043770711:102,813,943A/G—uncertain significance
rs88604755111:102,813,988A/G—uncertain significance
rs186043960511:102,814,041C/G—uncertain significance
rs104284011:102,814,110C/T—benign
rs53252871811:102,814,143G/A—uncertain significance
rs88604755311:102,814,224A/C—uncertain significance
rs88604755411:102,814,239T/C—uncertain significance
rs186044309111:102,814,272T/A—uncertain significance
rs11442833311:102,814,367T/C—likely benign
rs88604755511:102,814,559C/G—uncertain significance
rs18231543611:102,814,569T/C—likely benign
rs1786058411:102,814,681A/G—likely benign
rs78182544311:102,814,720A/G—uncertain significance
rs55575937211:102,814,731G/A—uncertain significance
rs1786058311:102,814,835C/T—conflicting classifications of pathogenicity
rs54400322811:102,814,839T/C—conflicting classifications of pathogenicity
rs186045739911:102,814,941A/G—uncertain significance
rs37251397111:102,814,982T/A—conflicting classifications of pathogenicity
rs126202473111:102,815,023A/G—uncertain significance
rs78196626411:102,815,027C/T—conflicting classifications of pathogenicity
rs37451273611:102,815,028G/A—likely benign
rs78270771511:102,815,029C/T—uncertain significance
rs55896091811:102,815,030G/C—uncertain significance
rs136843130211:102,815,038C/T—uncertain significance
rs14206482511:102,815,039G/A—conflicting classifications of pathogenicity
rs78247633311:102,815,044C/T—uncertain significance
rs13993950111:102,815,075C/T—uncertain significance
rs14543228411:102,815,076G/A—likely benign
rs78195202211:102,815,086T/C—uncertain significance
rs156525241211:102,815,102G/T—likely benign
rs37043489111:102,815,109C/T—benign
rs186046271511:102,815,110A/G—uncertain significance
rs37136939811:102,815,114A/T—likely benign
rs1786058211:102,815,255T/C—likely benign
rs11455052711:102,815,258T/C—likely benign
rs249644601711:102,815,961A/T—likely benign
rs375885311:102,816,343C/G—benign
rs375885411:102,816,356G/A—benign
rs37373551811:102,816,360A/G—conflicting classifications of pathogenicity
rs78193626711:102,816,363G/A—conflicting classifications of pathogenicity
rs78212499711:102,816,389A/G—uncertain significance
rs78247462511:102,816,398A/G—uncertain significance
rs186049469411:102,816,417G/C—uncertain significance
rs78254204911:102,816,418G/A—likely benign
rs15020379211:102,816,439C/T—conflicting classifications of pathogenicity
rs78218870311:102,816,440G/A—uncertain significance
rs104001751411:102,816,441G/A—uncertain significance
rs57264424511:102,816,453C/A—uncertain significance
rs141262279111:102,816,470T/A—uncertain significance
rs249644750411:102,816,472A/T—uncertain significance
rs19089682211:102,816,476T/C—uncertain significance
rs36892283611:102,816,479C/A—likely pathogenic
rs55483896111:102,816,492A/T—benign
rs1786057811:102,816,663C/T—benign
rs712069211:102,816,732A/G—benign
rs37343021811:102,818,601G/A—likely benign
rs78225844211:102,818,625G/C—uncertain significance
rs78181404611:102,818,643C/T—likely benign
rs186054052711:102,818,644A/G—uncertain significance
rs37018682911:102,818,658T/C—likely benign
rs1786056811:102,818,662T/C—likely benign
rs213451561711:102,818,668A/G—uncertain significance
rs78229224111:102,818,696C/G—uncertain significance
rs88604755711:102,818,708G/A—uncertain significance
rs87999881311:102,818,710C/A—uncertain significance
rs11237349811:102,818,714G/T—uncertain significance
rs78194988211:102,818,730G/C—conflicting classifications of pathogenicity
rs14542559411:102,818,749T/C—uncertain significance
rs6173700811:102,818,751A/C—pathogenic
rs78185501511:102,818,762G/C—uncertain significance
rs20139769211:102,818,764G/A—uncertain significance
rs88604480311:102,818,769A/C—uncertain significance
rs37099611511:102,818,771A/G—uncertain significance
rs78261305511:102,818,780C/G—likely pathogenic
rs105751839111:102,818,781T/G—pathogenic
rs78221134511:102,818,783G/T—likely benign
rs155501688011:102,818,787G/C—likely benign
rs1786056711:102,819,012G/A—benign
rs1786056611:102,819,016A/G—benign
rs1182724811:102,819,455A/G—benign
rs7576156911:102,819,512A/G—likely benign
rs1089537211:102,819,574T/C—benign
rs78184752311:102,819,739C/T—likely benign
rs37534724911:102,819,741G/A—likely benign
rs78218560911:102,819,751T/G—uncertain significance
rs155501700411:102,819,755T/A—uncertain significance
rs249645585911:102,819,794T/C—likely benign
rs249645586311:102,819,795G/A—uncertain significance
rs78261543911:102,819,800A/C—uncertain significance
rs78203554311:102,819,807C/T—uncertain significance
rs78215210411:102,819,808G/A—uncertain significance
rs159115560511:102,819,809G/A—likely benign
rs249645594911:102,819,825C/G—uncertain significance
rs213451694311:102,819,831G/T—pathogenic
rs18583299311:102,819,837G/A—conflicting classifications of pathogenicity

Showing 100 of 256 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.