GJB2

gap junction protein beta 2

Summary

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

Known Variants400 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1183967413:20,761,593C/T—benign
rs798869113:20,761,763A/G—benign
rs88605002613:20,761,834A/C—uncertain significance
rs1184118213:20,761,843A/T—likely benign
rs762313:20,761,888C/T—benign
rs923713:20,761,973A/C—benign
rs137075637613:20,762,000T/C—uncertain significance
rs18579017213:20,762,007C/T—conflicting classifications of pathogenicity
rs53768395713:20,762,024T/C—conflicting classifications of pathogenicity
rs54682622513:20,762,061T/C—uncertain significance
rs503070013:20,762,109G/A—benign
rs88605002713:20,762,240T/C—uncertain significance
rs18715869913:20,762,254C/T—conflicting classifications of pathogenicity
rs100643210513:20,762,361A/G—uncertain significance
rs55060039913:20,762,442G/T—uncertain significance
rs195905109013:20,762,490T/C—uncertain significance
rs56475565913:20,762,496A/G—uncertain significance
rs88605002813:20,762,558T/C—uncertain significance
rs11245742413:20,762,617G/A—uncertain significance
rs54785939113:20,762,628T/G—uncertain significance
rs195905205913:20,762,655C/G—uncertain significance
rs88609016213:20,762,732C/T—uncertain significance
rs92223202513:20,762,804T/A—uncertain significance
rs5570455913:20,762,872C/T—benign
rs55795300113:20,762,925T/G—uncertain significance
rs18208564913:20,762,926A/G—uncertain significance
rs732985713:20,762,929G/A—benign
rs733707413:20,762,936T/A—benign
rs375138513:20,762,956G/A—benign
rs195905432813:20,762,988G/A—uncertain significance
rs74574879313:20,763,036T/C—uncertain significance
rs11103346013:20,763,037G/T—likely benign
rs11103332713:20,763,039G/A—conflicting classifications of pathogenicity
rs76840744613:20,763,041T/C—likely benign
rs77384632413:20,763,044A/C—uncertain significance
rs37086831313:20,763,045C/T—uncertain significance
rs56315174013:20,763,046T/A—likely benign
rs155534178213:20,763,047G/A—uncertain significance
rs75751086713:20,763,049C/T—likely benign
rs11103319413:20,763,051T/Gmissense variantuncertain significance
rs76697599913:20,763,056G/Tstop gaineduncertain significance
rs37559939213:20,763,058C/G—uncertain significance
rs75281244813:20,763,068C/T—uncertain significance
rs76723300813:20,763,074C/A—uncertain significance
rs144633478413:20,763,075T/G—likely benign
rs75021697313:20,763,076A/G—likely benign
rs250024912213:20,763,080A/C—likely pathogenic
rs126804531113:20,763,089C/T—conflicting classifications of pathogenicity
rs103607334813:20,763,093A/G—conflicting classifications of pathogenicity
rs195905530913:20,763,100G/A—likely benign
rs11103329413:20,763,104T/Cmissense variantpathogenic
rs75440985513:20,763,109C/A—likely benign
rs195905539613:20,763,112G/A—likely benign
rs7683816913:20,763,113A/G—benign
rs250024928313:20,763,114T/G—uncertain significance
rs117638137013:20,763,115G/A—likely benign
rs10489440613:20,763,116C/Amissense variantpathogenic
rs195905551213:20,763,117A/G—conflicting classifications of pathogenicity
rs213730709113:20,763,121T/G—likely benign
rs78620459713:20,763,123C/Astop gainedpathogenic
rs98455525513:20,763,124A/G—likely benign
rs77174828913:20,763,125G/Amissense variantpathogenic
rs250024936413:20,763,126A/C—likely pathogenic
rs77376802613:20,763,127C/T—likely benign
rs213730712813:20,763,129C/T—pathogenic
rs75968382413:20,763,133A/G—likely benign
rs76517275113:20,763,134A/G—uncertain significance
rs57055295213:20,763,136C/T—conflicting classifications of pathogenicity
rs137867964013:20,763,137A/G—likely pathogenic
rs53220306813:20,763,138T/Amissense variantpathogenic
rs79472727113:20,763,139G/A—uncertain significance
rs74784719113:20,763,145——pathogenic
rs250024949213:20,763,145T/G—likely benign
rs39751687813:20,763,150A/G—uncertain significance
rs145647904713:20,763,151G/A—likely benign
rs195905607913:20,763,152A/T—uncertain significance
rs89388493313:20,763,154A/G—likely benign
rs19979040913:20,763,155G/T—uncertain significance
rs113169170913:20,763,158T/C—likely pathogenic
rs75587574113:20,763,160C/T—likely benign
rs145198222813:20,763,161T/C—conflicting classifications of pathogenicity
rs75367430013:20,763,164G/A—uncertain significance
rs213730725413:20,763,169C/T—likely benign
rs8033895013:20,763,170C/Tmissense variantpathogenic
rs99804522613:20,763,171G/A—pathogenic
rs250024966613:20,763,173G/A—likely pathogenic
rs75223626113:20,763,175C/T—likely benign
rs75817103613:20,763,184G/A—likely benign
rs2893159513:20,763,186C/Gmissense variantpathogenic
rs156652827613:20,763,187C/G—likely benign
rs56861262713:20,763,188A/G—pathogenic
rs127590110513:20,763,189C/A—conflicting classifications of pathogenicity
rs123717087513:20,763,190A/G—likely benign
rs250024977313:20,763,193G/T—uncertain significance
rs155534184013:20,763,194T/C—conflicting classifications of pathogenicity
rs78176772213:20,763,195T/C—pathogenic
rs213730732213:20,763,197G/C—likely pathogenic
rs213730732513:20,763,199A/G—likely benign
rs155534184313:20,763,203G/C—likely pathogenic
rs195905673613:20,763,204G/A—likely pathogenic

Showing 100 of 400 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.