GPHN

gephyrin

Summary

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

Known Variants692 total

rsidPosition (GRCh37)AllelesClassClinVar
rs714039314:66,973,843C/T—benign
rs1718263014:66,974,112C/T—likely benign
rs76867635614:66,975,245C/T—uncertain significance
rs254772108514:66,975,251G/T—likely benign
rs205788396714:66,975,254C/T—likely benign
rs254772112214:66,975,257G/A—likely benign
rs37064615114:66,975,265T/C—uncertain significance
rs132271952414:66,975,270A/G—uncertain significance
rs15022653714:66,975,271C/A—uncertain significance
rs12190853914:66,975,273A/Tmissense variantpathogenic
rs75098150614:66,975,287A/C—uncertain significance
rs55018702414:66,975,294G/A—conflicting classifications of pathogenicity
rs77908445114:66,975,302C/A—likely benign
rs254772138114:66,975,305T/A—likely benign
rs254772138914:66,975,312A/G—uncertain significance
rs75067214714:66,975,315C/G—uncertain significance
rs75850135514:66,975,316G/A—likely benign
rs20124560314:66,975,317G/C—benign
rs155536917914:66,975,318G/C—likely benign
rs76883191614:66,975,319G/A—likely benign
rs74809363614:66,975,325G/C—likely benign
rs7546939614:67,094,553T/G——
rs11257902014:67,129,058T/Cregulatory region variant—
rs123442571714:67,147,809C/T—likely benign
rs37382125314:67,147,813A/G—likely benign
rs375975314:67,147,816T/C—benign
rs76956550214:67,147,819A/G—likely benign
rs206691029714:67,147,824G/C—likely pathogenic
rs149043576414:67,147,828G/C—uncertain significance
rs77765118914:67,147,832T/C—likely benign
rs125475513014:67,147,842A/G—uncertain significance
rs77818325714:67,147,843G/A—uncertain significance
rs14424788814:67,147,846A/G—conflicting classifications of pathogenicity
rs37180245814:67,147,851G/A—uncertain significance
rs77158412914:67,147,860C/T—uncertain significance
rs206691191914:67,147,863A/G—uncertain significance
rs206691218814:67,147,871A/G—uncertain significance
rs76570619714:67,147,872A/G—uncertain significance
rs254856107414:67,147,874T/C—likely benign
rs215339542814:67,147,877C/G—likely benign
rs11725638314:67,147,887G/A—conflicting classifications of pathogenicity
rs77761812214:67,147,896C/T—uncertain significance
rs254856124214:67,147,903T/G—uncertain significance
rs18302260314:67,147,912T/C—likely benign
rs206691407714:67,147,916C/G—likely benign
rs375975414:67,147,993T/C—benign
rs7474939814:67,148,026C/T—likely benign
rs714275514:67,148,124C/G—benign
rs800535214:67,148,135A/T—benign
rs7605626714:67,243,035T/C—likely benign
rs133008803714:67,243,164T/G—likely benign
rs75986798814:67,243,168T/C—likely benign
rs76789182714:67,243,169C/T—likely benign
rs19975919214:67,243,172C/T—likely benign
rs254906804814:67,243,181G/C—likely pathogenic
rs138137760914:67,243,182G/T—uncertain significance
rs76479708314:67,243,186G/A—uncertain significance
rs75717030714:67,243,192A/G—uncertain significance
rs77871589714:67,243,194T/C—likely benign
rs74570607714:67,243,195A/G—uncertain significance
rs215346119714:67,243,196T/C—uncertain significance
rs147451035514:67,243,197A/C—likely benign
rs139560059414:67,243,201G/T—uncertain significance
rs75318211014:67,243,203A/G—likely benign
rs254906825014:67,243,206C/A—pathogenic
rs254906825914:67,243,208A/G—uncertain significance
rs205938654414:67,243,210A/T—uncertain significance
rs205938667514:67,243,213G/A—uncertain significance
rs143234697814:67,243,226T/C—uncertain significance
rs123131548614:67,243,236C/G—uncertain significance
rs205938711714:67,243,242A/G—uncertain significance
rs36997362014:67,243,250G/A—likely benign
rs37306812714:67,243,251C/T—likely benign
rs37354634114:67,243,256T/G—likely benign
rs932348514:67,243,497A/G—benign
rs11193161314:67,291,114A/G—likely benign
rs378407414:67,291,154A/G—benign
rs77962001714:67,291,172A/G—likely benign
rs74637083814:67,291,174A/G—likely benign
rs55647002514:67,291,176T/A—likely benign
rs206132177514:67,291,177A/G—likely benign
rs378407514:67,291,186T/C—benign
rs254928382814:67,291,189C/G—uncertain significance
rs254928388214:67,291,198C/T—likely benign
rs215349296014:67,291,202T/A—uncertain significance
rs97439441214:67,291,205A/G—uncertain significance
rs76896354714:67,291,215T/C—likely benign
rs215349296914:67,291,228A/C—uncertain significance
rs206132326414:67,291,245T/A—likely benign
rs215349297514:67,291,252A/C—uncertain significance
rs254928425514:67,291,260T/C—likely benign
rs14002139914:67,291,261G/A—conflicting classifications of pathogenicity
rs93791946514:67,291,264C/T—uncertain significance
rs206132384114:67,291,267C/T—pathogenic
rs19997992114:67,291,268G/A—uncertain significance
rs254928445014:67,291,285G/T—likely pathogenic
rs206132435214:67,291,289G/A—uncertain significance
rs137606695714:67,291,297A/C—likely benign
rs37360569614:67,291,300C/T—likely benign
rs206385061114:67,346,638A/C—likely benign

Showing 100 of 692 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.