ITGA7

integrin subunit alpha 7

Summary

The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]

Known Variants853 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11568788612:56,077,768C/T—benign
rs77241974412:56,078,847C/T—uncertain significance
rs186976175712:56,078,851G/C—likely benign
rs94363631212:56,078,860T/C—likely benign
rs186976571512:56,078,862G/C—uncertain significance
rs77006623712:56,078,868C/T—uncertain significance
rs37420916612:56,078,869A/G—likely benign
rs57215842012:56,078,871C/T—uncertain significance
rs14817094912:56,078,872G/A—likely benign
rs37120316612:56,078,883C/G—uncertain significance
rs14148678112:56,078,884G/A—likely benign
rs75025837212:56,078,892C/T—uncertain significance
rs37297721012:56,078,893G/A—likely benign
rs128757437912:56,078,901C/T—uncertain significance
rs132107268312:56,078,903A/G—uncertain significance
rs148279342412:56,078,907T/G—uncertain significance
rs37633656912:56,078,908G/A—likely benign
rs105375733712:56,078,914T/G—likely benign
rs147345713612:56,078,920C/T—likely benign
rs14618314512:56,078,921G/A—uncertain significance
rs11780326112:56,078,931G/A—uncertain significance
rs20170966212:56,078,933C/T—uncertain significance
rs77580104512:56,078,934G/A—conflicting classifications of pathogenicity
rs54352825112:56,078,935G/T—likely benign
rs122903129212:56,078,938G/C—uncertain significance
rs76882355612:56,078,947G/C—uncertain significance
rs37065492412:56,078,957A/G—uncertain significance
rs76054361012:56,078,966C/A—uncertain significance
rs20048504812:56,078,969G/A—uncertain significance
rs20039052912:56,078,988G/A—conflicting classifications of pathogenicity
rs75465531512:56,078,993C/T—conflicting classifications of pathogenicity
rs75769046012:56,079,002C/T—uncertain significance
rs20034698012:56,079,003G/A—uncertain significance
rs186981721212:56,079,009T/A—uncertain significance
rs20197736012:56,079,017G/A—uncertain significance
rs75647782312:56,079,019A/G—likely benign
rs74952078912:56,079,020T/C—uncertain significance
rs253958450912:56,079,021G/A—uncertain significance
rs135142656912:56,079,023T/C—uncertain significance
rs56507586512:56,079,031C/A—likely benign
rs37584264712:56,079,033C/T—uncertain significance
rs76871758812:56,079,034G/A—likely benign
rs116126254412:56,079,035G/A—uncertain significance
rs213593176012:56,079,038G/T—uncertain significance
rs55995506512:56,079,043G/A—likely benign
rs77318002412:56,079,046G/A—likely benign
rs75913498912:56,079,052C/T—likely benign
rs13913693112:56,079,053G/A—uncertain significance
rs75215918912:56,079,056C/T—uncertain significance
rs36757421712:56,079,057G/A—uncertain significance
rs14403453212:56,079,067T/A—likely benign
rs95051983512:56,079,075A/G—uncertain significance
rs143423447312:56,079,077A/T—uncertain significance
rs186983965812:56,079,078A/C—uncertain significance
rs385253312:56,079,084C/G—benign
rs75521244312:56,079,088G/C—likely benign
rs77930012312:56,079,090C/T—likely benign
rs14657024112:56,079,175G/A—likely benign
rs1117165712:56,079,358A/T—benign
rs13977397312:56,081,511C/T—likely benign
rs187058918912:56,081,735G/T—likely benign
rs19097418112:56,081,738C/T—likely benign
rs37714875112:56,081,764G/A—likely benign
rs213595349112:56,081,769G/T—uncertain significance
rs213595352612:56,081,772C/G—uncertain significance
rs77976690712:56,081,778G/A—likely benign
rs123941866812:56,081,780G/C—uncertain significance
rs11473570412:56,081,788C/A—likely benign
rs6264807112:56,081,794C/G—benign
rs76006425112:56,081,805C/T—uncertain significance
rs76456518012:56,081,820C/A—uncertain significance
rs148864472812:56,081,825C/A—uncertain significance
rs143980441412:56,081,830C/T—likely benign
rs253963616312:56,081,848A/G—likely benign
rs77999801412:56,081,856G/A—uncertain significance
rs75469982012:56,081,863G/C—pathogenic
rs77883573412:56,081,866T/C—likely benign
rs129218181012:56,081,874C/G—uncertain significance
rs122775763312:56,081,878G/C—uncertain significance
rs88604966412:56,081,884G/T—likely benign
rs155515833112:56,081,885G/A—likely benign
rs20107030812:56,081,886G/A—likely benign
rs253963715012:56,081,889C/T—likely benign
rs141628528712:56,081,893G/A—likely benign
rs187063250812:56,081,900T/C—likely benign
rs56751523612:56,081,966C/T—likely benign
rs145164380712:56,081,970C/T—likely benign
rs76188136412:56,081,971A/G—likely benign
rs76772975112:56,081,974C/G—likely benign
rs14979865012:56,081,978C/T—likely benign
rs136876242012:56,081,979A/G—likely benign
rs76648678212:56,081,988C/G—uncertain significance
rs131292090412:56,081,995G/A—likely benign
rs77984349712:56,082,002C/T—uncertain significance
rs37751022012:56,082,003G/A—conflicting classifications of pathogenicity
rs1711787912:56,082,012A/G—benign
rs75470280612:56,082,016C/G—uncertain significance
rs1711788312:56,082,025G/C—benign
rs213595571512:56,082,030T/G—uncertain significance
rs77626926112:56,082,033C/T—uncertain significance

Showing 100 of 853 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.