GFAP

glial fibrillary acidic protein

Summary

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Known Variants393 total

rsidPosition (GRCh37)AllelesClassClinVar
rs374447317:42,982,288A/Gmissense variant—
rs26760766917:42,984,683G/C—not provided
rs11348755017:42,984,699T/C—likely benign
rs26760752117:42,984,737T/A—not provided
rs106479722217:42,984,752A/G—uncertain significance
rs125576515517:42,984,765G/T—likely benign
rs186482055917:42,984,766A/T—likely benign
rs76108208617:42,984,775G/A—likely benign
rs1165139617:42,984,842G/A—benign
rs7693017417:42,984,959G/A—benign
rs7437807417:42,985,210A/C—benign
rs205167993717:42,985,431C/T—uncertain significance
rs74637052917:42,985,433T/C—uncertain significance
rs214562627317:42,985,437C/T—uncertain significance
rs26760752017:42,985,439T/G—not provided
rs20127015517:42,985,442C/T—uncertain significance
rs12190971717:42,985,443G/Tdownstream gene variantlikely benign
rs250892301617:42,985,444C/T—likely pathogenic
rs138704155117:42,985,452C/T—uncertain significance
rs14629894417:42,985,453G/T—likely benign
rs159785309917:42,985,454G/A—likely pathogenic
rs250892308717:42,985,461C/A—uncertain significance
rs148568882317:42,985,464C/T—uncertain significance
rs155557346217:42,985,469T/A—likely pathogenic
rs37270046317:42,985,473T/C—uncertain significance
rs138568693617:42,985,482G/A—uncertain significance
rs76484546417:42,985,485C/T—uncertain significance
rs26760750817:42,985,496G/T—pathogenic
rs75776053617:42,985,507C/T—likely benign
rs6263576417:42,985,511C/A—not provided
rs74617396817:42,985,520G/A—uncertain significance
rs205168311017:42,985,533G/C—likely benign
rs7398642017:42,985,637G/A—benign
rs381627617:42,985,704A/G—benign
rs3463710617:42,985,772C/T—benign
rs991532917:42,985,823C/T—not provided
rs1294183217:42,987,482G/T—benign
rs37038509817:42,987,509C/T—likely benign
rs77552407317:42,987,510G/T—conflicting classifications of pathogenicity
rs74886034117:42,987,511C/Gregulatory region variantuncertain significance
rs7899494617:42,987,512A/G—likely benign
rs20046802617:42,987,516C/T—likely benign
rs77705931317:42,987,518G/T—uncertain significance
rs76578197817:42,987,520G/A—uncertain significance
rs95850269417:42,987,522C/G—likely benign
rs990808417:42,987,523A/G—benign
rs991649117:42,987,524T/C—benign
rs142180980817:42,987,533C/T—likely benign
rs75750340317:42,987,534A/G—likely benign
rs19949939617:42,987,539G/A—uncertain significance
rs78018512617:42,987,558A/C—benign
rs74923672117:42,987,560C/T—uncertain significance
rs19964163317:42,987,562C/T—likely benign
rs18097401417:42,987,563G/A—conflicting classifications of pathogenicity
rs119968802217:42,987,587T/C—likely benign
rs76557973117:42,987,608C/T—likely benign
rs129717905817:42,987,609G/A—likely benign
rs125562953317:42,987,617T/C—likely benign
rs36945103217:42,987,624G/C—likely benign
rs139858526117:42,987,631G/A—uncertain significance
rs55119608717:42,987,834T/C—likely benign
rs56023086817:42,987,839A/G—uncertain significance
rs250893009917:42,987,840G/A—likely benign
rs103554677717:42,987,844C/T—uncertain significance
rs129575491217:42,987,917A/T—uncertain significance
rs76916955317:42,987,962A/G—uncertain significance
rs36954024217:42,987,963C/G—likely benign
rs37648471817:42,987,964G/T—likely benign
rs123873488117:42,987,967G/A—likely benign
rs75903221217:42,987,978C/T—uncertain significance
rs7398642117:42,987,979T/C—uncertain significance
rs36974294417:42,987,983C/T—uncertain significance
rs133373188417:42,987,985C/T—uncertain significance
rs205173957817:42,987,986G/A—uncertain significance
rs94211873217:42,987,987A/G—likely benign
rs6172647117:42,987,997T/Cmissense variantpathogenic
rs144665844017:42,987,998T/G—uncertain significance
rs79704459017:42,988,000G/Amissense variantpathogenic
rs26760751717:42,988,006G/Tmissense variantuncertain significance
rs14132712317:42,988,010G/C—uncertain significance
rs26760752717:42,988,014G/A—likely benign
rs128523492917:42,988,019T/C—uncertain significance
rs75798431917:42,988,026C/G—uncertain significance
rs228967917:42,988,092G/C—benign
rs7137352617:42,988,177G/A—benign
rs76023036017:42,988,594G/T—likely benign
rs105710780817:42,988,599C/T—uncertain significance
rs11185425017:42,988,602A/T—uncertain significance
rs250893314117:42,988,604C/T—conflicting classifications of pathogenicity
rs26760751217:42,988,605G/Cmissense variantpathogenic
rs156777347017:42,988,606G/C—likely pathogenic
rs5962814317:42,988,610T/Cmissense variantnot provided
rs79704458917:42,988,613T/Gmissense variantnot provided
rs5807560117:42,988,614C/Tmissense variantpathogenic
rs99776608017:42,988,616C/T—uncertain significance
rs5781519217:42,988,619T/Cmissense variantnot provided
rs26760752617:42,988,620C/Gmissense variantconflicting classifications of pathogenicity
rs214563262317:42,988,622A/G—likely pathogenic
rs155557405517:42,988,626G/C—uncertain significance
rs75673578217:42,988,629T/G—uncertain significance

Showing 100 of 393 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.