DSG2

desmoglein 2

Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

Known Variants1,459 total

rsidPosition (GRCh37)AllelesClassClinVar
rs136710774518:29,078,037G/A—uncertain significance
rs88605370718:29,078,059G/A—uncertain significance
rs147883358618:29,078,071G/A—uncertain significance
rs88605370918:29,078,080A/T—uncertain significance
rs14904846518:29,078,121G/C—likely benign
rs55291539218:29,078,136C/G—conflicting classifications of pathogenicity
rs55153901518:29,078,160G/C—conflicting classifications of pathogenicity
rs88605371018:29,078,171C/A—uncertain significance
rs214427622318:29,078,178G/C—benign
rs90323146918:29,078,182G/A—uncertain significance
rs95588203018:29,078,193G/A—likely benign
rs105752317118:29,078,199C/G—likely benign
rs72750298218:29,078,200G/A—uncertain significance
rs101178709718:29,078,203G/A—uncertain significance
rs72750445018:29,078,204G/A—uncertain significance
rs88605371118:29,078,211T/G—uncertain significance
rs89642865818:29,078,212G/A—uncertain significance
rs214427642518:29,078,213C/T—uncertain significance
rs101216008218:29,078,214G/C—conflicting classifications of pathogenicity
rs207299401718:29,078,215A/C—conflicting classifications of pathogenicity
rs102145761918:29,078,217G/A—conflicting classifications of pathogenicity
rs36880997118:29,078,220G/A—likely benign
rs207299408418:29,078,221C/G—uncertain significance
rs97986546318:29,078,222G/A—conflicting classifications of pathogenicity
rs141511797418:29,078,224A/G—uncertain significance
rs116310703118:29,078,226C/G—likely benign
rs207299415118:29,078,227C/G—uncertain significance
rs53051793618:29,078,228C/T—uncertain significance
rs77266361418:29,078,229G/C—conflicting classifications of pathogenicity
rs77353948818:29,078,234G/C—uncertain significance
rs251090365118:29,078,235C/T—likely benign
rs207299429518:29,078,236G/A—uncertain significance
rs95966437418:29,078,238G/C—likely benign
rs125661225418:29,078,239T/G—uncertain significance
rs214427657218:29,078,240A/T—uncertain significance
rs145217915818:29,078,241C/A—pathogenic
rs156809854718:29,078,244C/A—likely benign
rs122009129818:29,078,245C/G—uncertain significance
rs214427660618:29,078,246T/G—uncertain significance
rs99241719118:29,078,247G/C—likely benign
rs127614701018:29,078,251C/T—conflicting classifications of pathogenicity
rs143656666618:29,078,252T/G—uncertain significance
rs207299454818:29,078,253T/G—likely benign
rs155566969118:29,078,256C/T—likely benign
rs37217454618:29,078,258T/A—conflicting classifications of pathogenicity
rs130309270518:29,078,259G/A—conflicting classifications of pathogenicity
rs156809857018:29,078,260G/C—likely pathogenic
rs251090367218:29,078,261T/C—likely pathogenic
rs142321426018:29,078,264G/C—uncertain significance
rs207299467618:29,078,265T/C—conflicting classifications of pathogenicity
rs145728553218:29,078,267C/T—likely benign
rs37657340918:29,078,268C/G—conflicting classifications of pathogenicity
rs77697598018:29,078,269G/T—conflicting classifications of pathogenicity
rs19951950218:29,078,275G/C—likely benign
rs75285393418:29,078,276G/A—likely benign
rs76289486018:29,078,277G/T—likely benign
rs76421184318:29,078,278A/G—likely benign
rs994542018:29,078,516A/C—benign
rs221261718:29,087,973A/Gintron variant—
rs270405218:29,095,434C/Gintron variant—
rs37361707418:29,098,188A/G—uncertain significance
rs251090951418:29,098,190T/A—likely benign
rs75789159018:29,098,191T/C—likely benign
rs214431151618:29,098,193A/G—likely benign
rs77730261618:29,098,199C/T—conflicting classifications of pathogenicity
rs37666060118:29,098,202A/G—uncertain significance
rs147835153518:29,098,203T/C—uncertain significance
rs96062754518:29,098,209T/G—uncertain significance
rs18526638318:29,098,211A/G—likely benign
rs58778092518:29,098,213C/T—likely benign
rs74619205518:29,098,214G/A—uncertain significance
rs117326537118:29,098,216T/C—likely benign
rs251090954118:29,098,218G/A—uncertain significance
rs251090954418:29,098,220A/G—uncertain significance
rs133569549218:29,098,229C/T—uncertain significance
rs251090955618:29,098,232T/C—likely benign
rs207310532718:29,098,234A/G—likely benign
rs214431163618:29,098,237G/A—uncertain significance
rs123762014518:29,098,238G/T—likely pathogenic
rs251090956818:29,098,242G/A—uncertain significance
rs76320453418:29,098,244A/G—likely benign
rs251090957718:29,098,246A/G—likely benign
rs76415080618:29,098,247C/T—likely benign
rs140980902818:29,098,250A/G—likely benign
rs37011000018:29,098,251G/A—likely benign
rs207310558718:29,098,252G/A—likely benign
rs52923170018:29,098,253G/T—likely benign
rs54739975918:29,098,254A/G—likely benign
rs227614918:29,098,323A/G—benign
rs980737718:29,098,345C/T—benign
rs980737918:29,098,474G/A—benign
rs74645573618:29,099,747C/G—likely benign
rs75776423418:29,099,749A/G—uncertain significance
rs251091026618:29,099,753T/G—likely benign
rs130189397818:29,099,754C/T—likely benign
rs143717075218:29,099,756A/G—likely benign
rs214431384418:29,099,758T/C—likely benign
rs133237906118:29,099,762A/G—likely benign
rs37009981118:29,099,763T/C—conflicting classifications of pathogenicity
rs207311648818:29,099,764A/G—conflicting classifications of pathogenicity

Showing 100 of 1,459 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.