TNXB

tenascin XB

Summary

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants2,140 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7583997976:32,008,600C/T—likely benign
rs10581526:32,008,963C/T—benign
rs5620254386:32,009,087C/T—likely benign
rs7522053326:32,009,130C/A—uncertain significance
rs561481096:32,009,133C/A—uncertain significance
rs12435522606:32,009,136C/G—uncertain significance
rs11715018766:32,009,146A/G—likely benign
rs5296188206:32,009,149G/A—uncertain significance
rs4156206:32,009,279T/C—benign
rs4516526:32,009,284G/A—benign
rs77747396:32,009,301A/G—benign
rs5525587686:32,009,327C/T—likely benign
rs64574756:32,009,351C/T—likely benign
rs64574766:32,009,354T/C—likely benign
rs31287576:32,009,456A/G—benign
rs7578890256:32,009,569G/A—likely benign
rs12461959216:32,009,570T/C—uncertain significance
rs14817683646:32,009,577C/T—uncertain significance
rs12036948436:32,009,578G/A—likely benign
rs7565083666:32,009,589C/T—likely benign
rs24833519906:32,009,637A/T—uncertain significance
rs5293503376:32,009,641G/A—likely benign
rs1999532306:32,009,651C/T—conflicting classifications of pathogenicity
rs13730480706:32,009,653G/A—likely benign
rs2005237176:32,009,661C/T—conflicting classifications of pathogenicity
rs5446040536:32,009,669C/T—conflicting classifications of pathogenicity
rs11726437156:32,009,688C/T—uncertain significance
rs5457192096:32,009,787A/G—conflicting classifications of pathogenicity
rs12047188286:32,009,821C/T—uncertain significance
rs117555626:32,009,880G/A—likely benign
rs14312222306:32,009,882C/T—uncertain significance
rs15823194916:32,009,958T/C—uncertain significance
rs2007664406:32,010,016G/C—benign
rs24833568616:32,010,091C/T—uncertain significance
rs2015106176:32,010,126C/T—conflicting classifications of pathogenicity
rs15627697696:32,010,127G/A—uncertain significance
rs5877776826:32,010,130G/Amissense variantpathogenic
rs413166406:32,010,189A/C—likely benign
rs49590856:32,010,227C/T—conflicting classifications of pathogenicity
rs13470998056:32,010,242C/T—uncertain significance
rs1498101246:32,010,244C/T—likely benign
rs563455906:32,010,262G/C—conflicting classifications of pathogenicity
rs24833591126:32,010,263C/T—uncertain significance
rs174211336:32,010,272T/A—benign
rs7677401376:32,010,274C/G—conflicting classifications of pathogenicity
rs21518809096:32,010,275A/G—uncertain significance
rs7505036676:32,010,281C/G—uncertain significance
rs64574796:32,010,286G/C—likely benign
rs7511923036:32,010,287C/T—uncertain significance
rs7568624086:32,010,294C/T—uncertain significance
rs9613523746:32,010,330C/A—uncertain significance
rs7608286496:32,010,333C/T—uncertain significance
rs624026826:32,010,351C/G—uncertain significance
rs7767340086:32,010,449C/T—likely benign
rs7628398116:32,010,461C/T—likely benign
rs5627056176:32,010,465C/T—likely benign
rs7616001756:32,010,470A/C—conflicting classifications of pathogenicity
rs7500965626:32,010,478G/A—uncertain significance
rs9727698326:32,010,481G/A—uncertain significance
rs24833631786:32,010,551T/C—uncertain significance
rs77426326:32,010,572G/T—benign
rs24833645986:32,010,726A/T—likely pathogenic
rs11358096:32,010,732T/Gmissense variantbenign
rs12421541826:32,010,808C/T—uncertain significance
rs13823265556:32,010,850C/T—likely benign
rs8860386496:32,011,198C/T—likely benign
rs27343136:32,011,204G/C—benign
rs28564536:32,011,235C/T—benign
rs283610496:32,011,248C/Tsynonymous variant—
rs7729576626:32,011,254A/T—uncertain significance
rs2011210306:32,011,283C/T—conflicting classifications of pathogenicity
rs7589362406:32,011,292C/T—uncertain significance
rs7473792326:32,011,309C/T—uncertain significance
rs7814731526:32,011,310G/A—uncertain significance
rs47134986:32,011,316G/T—benign
rs47112836:32,011,317T/C—likely benign
rs1996889286:32,011,325C/T—conflicting classifications of pathogenicity
rs28564516:32,011,358A/G—benign
rs24718116:32,011,368C/T—benign
rs715653056:32,011,369G/T—likely benign
rs20755656:32,011,421C/T—likely benign
rs23950836:32,011,480G/A—likely benign
rs23950846:32,011,489G/A—likely benign
rs7810916796:32,011,544T/C—uncertain significance
rs8895753246:32,011,570C/T—uncertain significance
rs7654005456:32,011,597C/G—uncertain significance
rs1385583516:32,011,598G/A—uncertain significance
rs1426102506:32,011,601C/T—uncertain significance
rs17766296386:32,011,621A/G—uncertain significance
rs1491979996:32,011,634G/C—uncertain significance
rs7611178076:32,011,635G/A—uncertain significance
rs23950856:32,011,639T/C—likely benign
rs28942326:32,011,644A/G—likely benign
rs28942336:32,011,678A/G—likely benign
rs5492093086:32,011,679T/C—conflicting classifications of pathogenicity
rs3979486:32,011,714A/G—benign
rs5780366116:32,011,769T/C—likely benign
rs5724186156:32,011,812G/A—likely benign
rs7690747726:32,011,821C/T—likely benign
rs5428706416:32,011,825C/T—conflicting classifications of pathogenicity

Showing 100 of 2,140 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.