CTNNA3

catenin alpha 3

Summary

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Known Variants818 total

rsidPosition (GRCh37)AllelesClassClinVar
rs178692910:67,679,048A/C——
rs7742478210:67,679,845C/T—benign
rs213310513510:67,680,088T/C—uncertain significance
rs207706215710:67,680,090A/G—uncertain significance
rs142652159610:67,680,092T/C—uncertain significance
rs75069757210:67,680,099G/T—uncertain significance
rs158912919110:67,680,106T/C—likely benign
rs249236526710:67,680,107C/T—uncertain significance
rs207706269610:67,680,111A/G—uncertain significance
rs75884299810:67,680,122A/G—uncertain significance
rs128634334510:67,680,126G/T—uncertain significance
rs207706335410:67,680,128A/C—uncertain significance
rs75188408710:67,680,129A/G—likely benign
rs249236567010:67,680,134T/C—uncertain significance
rs144560631210:67,680,141T/G—uncertain significance
rs78116729210:67,680,146T/G—uncertain significance
rs37436863510:67,680,147T/G—uncertain significance
rs37774078610:67,680,148T/C—likely benign
rs207706437710:67,680,153A/G—uncertain significance
rs77892141710:67,680,158C/T—uncertain significance
rs76144909810:67,680,159G/A—uncertain significance
rs77510301610:67,680,160T/G—uncertain significance
rs74670481010:67,680,162T/G—likely benign
rs57570323810:67,680,175C/T—likely benign
rs76140244010:67,680,176G/A—uncertain significance
rs156451568510:67,680,187C/A—uncertain significance
rs249236650810:67,680,191T/C—uncertain significance
rs195685836310:67,680,192C/T—uncertain significance
rs137544590410:67,680,194C/G—uncertain significance
rs54433480410:67,680,195T/C—uncertain significance
rs76689606310:67,680,201T/A—uncertain significance
rs4131384010:67,680,203A/G—conflicting classifications of pathogenicity
rs213310582110:67,680,204A/G—likely benign
rs249236689410:67,680,209T/G—uncertain significance
rs146755034210:67,680,212T/C—uncertain significance
rs213310590610:67,680,213T/C—uncertain significance
rs75266101010:67,680,214T/C—likely benign
rs55782888510:67,680,219G/T—uncertain significance
rs77871222410:67,680,222C/A—uncertain significance
rs11581403210:67,680,223C/T—likely benign
rs249236720510:67,680,225T/G—uncertain significance
rs13823767610:67,680,226C/T—uncertain significance
rs139196146210:67,680,236A/G—uncertain significance
rs213310604510:67,680,244T/C—likely benign
rs207706663310:67,680,246G/C—uncertain significance
rs54021120410:67,680,248T/C—uncertain significance
rs78090381510:67,680,251C/T—uncertain significance
rs19985282510:67,680,252G/A—conflicting classifications of pathogenicity
rs76940719210:67,680,253G/A—likely benign
rs37308169210:67,680,275C/T—uncertain significance
rs20219616610:67,680,276G/A—uncertain significance
rs75302960610:67,680,278A/C—uncertain significance
rs249236809810:67,680,279T/C—uncertain significance
rs37631002010:67,680,282T/A—uncertain significance
rs54201487710:67,680,283C/A—uncertain significance
rs75395056210:67,680,294C/T—uncertain significance
rs77998189310:67,680,298G/A—likely benign
rs75129156210:67,680,304C/T—uncertain significance
rs213310649510:67,680,316T/C—likely benign
rs148363024410:67,680,317T/C—uncertain significance
rs123921875010:67,680,321C/T—uncertain significance
rs249236882410:67,680,322T/C—likely benign
rs74788758910:67,680,324C/T—uncertain significance
rs77737425510:67,680,337A/G—likely benign
rs207706871410:67,680,338T/A—uncertain significance
rs77150393910:67,680,348C/T—uncertain significance
rs207706896010:67,680,349T/C—likely benign
rs249236916110:67,680,355C/T—likely benign
rs130744414710:67,680,357G/A—likely benign
rs138071442210:67,680,361T/C—likely benign
rs37068898310:67,680,366C/T—uncertain significance
rs207706920010:67,680,367A/G—likely benign
rs53072734010:67,680,372C/A—conflicting classifications of pathogenicity
rs76188815110:67,680,386A/C—benign
rs75478818310:67,680,393A/G—likely benign
rs54652144110:67,680,461G/A—likely benign
rs18182022910:67,680,541G/A—likely benign
rs790792810:67,680,578T/C—benign
rs167014410:67,680,664T/C—benign
rs792267410:67,680,668C/A—benign
rs227615810:67,726,164A/T—benign
rs76737354610:67,726,352G/C—likely benign
rs75247570010:67,726,357A/G—likely benign
rs249264299910:67,726,365C/T—uncertain significance
rs75586388310:67,726,373T/C—likely benign
rs207797176410:67,726,375A/G—uncertain significance
rs207797186710:67,726,377A/G—uncertain significance
rs145204284810:67,726,378T/C—uncertain significance
rs137239594610:67,726,384G/A—uncertain significance
rs249264328610:67,726,388T/C—likely benign
rs14511979810:67,726,390C/T—uncertain significance
rs18824852210:67,726,392C/T—likely benign
rs77860695610:67,726,393C/T—uncertain significance
rs213325702010:67,726,395A/G—uncertain significance
rs249264340210:67,726,398T/C—uncertain significance
rs75888277410:67,726,402G/C—uncertain significance
rs129231857010:67,726,413T/C—uncertain significance
rs249264351510:67,726,416A/G—uncertain significance
rs213325712810:67,726,419T/C—uncertain significance
rs76906936410:67,726,421A/G—likely benign

Showing 100 of 818 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.