ITIH5

inter-alpha-trypsin inhibitor heavy chain 5

Summary

This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants89 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1079555010:7,604,354T/A——
rs78114253210:7,605,125C/G—uncertain significance
rs76828391210:7,605,141C/T—uncertain significance
rs76161875510:7,605,183C/G—uncertain significance
rs76987486610:7,605,210C/G—uncertain significance
rs249118934010:7,605,299G/C—uncertain significance
rs19392074110:7,605,330C/A—uncertain significance
rs77909741010:7,608,002C/T—uncertain significance
rs37125732210:7,608,011T/C—uncertain significance
rs14283674210:7,608,141G/T—uncertain significance
rs76868871210:7,608,223T/A—uncertain significance
rs90365313010:7,608,308G/A—uncertain significance
rs76325910210:7,608,335C/T—uncertain significance
rs56132580810:7,608,357G/C—uncertain significance
rs115858449110:7,611,642T/C—uncertain significance
rs74846909510:7,611,651A/C—uncertain significance
rs13941878910:7,611,678C/G—uncertain significance
rs52957014710:7,611,697C/T—uncertain significance
rs1125519510:7,615,391A/Gintron variant—
rs147019037710:7,618,430G/C—uncertain significance
rs76000098610:7,618,434C/T—uncertain significance
rs14258603910:7,618,440C/G—likely benign
rs120121417810:7,618,485G/A—likely benign
rs75989592010:7,618,487G/A—uncertain significance
rs14881153110:7,618,556C/T—likely benign
rs14805208210:7,618,569C/A—uncertain significance
rs7523309210:7,618,578G/C—uncertain significance
rs37227557410:7,618,589C/T—uncertain significance
rs37332227610:7,618,607G/T—likely benign
rs76101225310:7,618,670C/T—uncertain significance
rs249123322010:7,618,743T/G—uncertain significance
rs14607712810:7,618,776T/C—likely benign
rs52987449210:7,618,800C/T—uncertain significance
rs37381323610:7,618,812C/T—uncertain significance
rs56777353510:7,618,869C/T—uncertain significance
rs11135754910:7,618,919G/C—uncertain significance
rs11299201210:7,618,934C/T—uncertain significance
rs139213753910:7,618,935G/T—uncertain significance
rs20211015610:7,618,964T/A—uncertain significance
rs54556091910:7,621,756G/A—likely benign
rs37089270210:7,621,760C/T—uncertain significance
rs77719059010:7,621,784G/A—uncertain significance
rs11277094910:7,621,816G/C—uncertain significance
rs77856387010:7,621,830T/C—uncertain significance
rs77555977110:7,621,862T/C—uncertain significance
rs76302111610:7,621,865C/T—uncertain significance
rs3605626310:7,621,875T/Gmissense variant—
rs148119454710:7,621,891G/T—uncertain significance
rs36863711210:7,621,902C/T—uncertain significance
rs15044155210:7,621,955C/T—likely benign
rs56770179910:7,621,958A/G—uncertain significance
rs143312377910:7,621,982T/C—uncertain significance
rs78151407710:7,622,013C/G—uncertain significance
rs37716685110:7,622,015T/C—uncertain significance
rs76852772110:7,627,912T/C—uncertain significance
rs135141564110:7,627,920G/A—uncertain significance
rs75307148710:7,627,956C/T—uncertain significance
rs75733722510:7,627,972T/C—uncertain significance
rs52987866910:7,627,983C/T—likely benign
rs1125520610:7,628,027C/T—benign
rs1125523310:7,648,273T/Cintron variant—
rs56690118010:7,657,966C/T—uncertain significance
rs129707883310:7,659,077T/C—uncertain significance
rs76176314610:7,659,104T/C—uncertain significance
rs142307845310:7,659,117T/C—uncertain significance
rs142745601210:7,659,173G/C—likely benign
rs124476251610:7,659,210G/C—uncertain significance
rs77476936610:7,659,227G/A—uncertain significance
rs145185348010:7,679,208C/T—uncertain significance
rs249089634610:7,679,219G/C—uncertain significance
rs14038687410:7,679,232G/A—uncertain significance
rs122068171110:7,679,286C/T—uncertain significance
rs97323112610:7,679,299A/G—uncertain significance
rs20042064410:7,679,317C/G—uncertain significance
rs76714196710:7,679,362C/T—uncertain significance
rs74698463410:7,679,383C/A—uncertain significance
rs156427377510:7,679,396G/C—uncertain significance
rs249089805010:7,679,437T/C—uncertain significance
rs74802965110:7,682,733T/C—uncertain significance
rs78170445910:7,682,777C/T—likely benign
rs37396571810:7,683,905A/G—uncertain significance
rs37294199310:7,683,954C/G—uncertain significance
rs249090947810:7,683,974C/G—uncertain significance
rs1224134710:7,683,991G/A—benign
rs75721694510:7,684,002G/A—uncertain significance
rs37308919810:7,684,038T/A—uncertain significance
rs660225810:7,698,738G/T——
rs790922310:7,700,709A/T——
rs188733010:7,704,782C/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.