NEBL

nebulette

Summary

This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Known Variants989 total

rsidPosition (GRCh37)AllelesClassClinVar
rs229661310:21,074,455T/C—benign
rs72750494710:21,074,672A/T—benign
rs76301598310:21,074,678A/G—uncertain significance
rs13933853110:21,074,685A/C—uncertain significance
rs37520882510:21,074,690C/T—uncertain significance
rs140094744410:21,074,693T/C—uncertain significance
rs75730435410:21,074,700C/T—likely benign
rs76972809810:21,074,701G/T—uncertain significance
rs249136622410:21,074,708G/A—uncertain significance
rs229661410:21,074,724T/C—likely benign
rs53462130010:21,074,736T/C—likely benign
rs13915678310:21,074,742G/A—likely benign
rs77153066510:21,074,755T/C—uncertain significance
rs86800382710:21,074,756C/T—uncertain significance
rs14494618710:21,074,757G/A—likely benign
rs74629872810:21,074,762T/C—uncertain significance
rs213161364910:21,074,763A/T—likely benign
rs249136697210:21,074,765G/A—uncertain significance
rs20157193810:21,074,766C/A—uncertain significance
rs77570993010:21,074,772G/A—likely benign
rs183536034510:21,074,774T/C—uncertain significance
rs249136713210:21,074,776A/G—uncertain significance
rs86765306910:21,074,777C/T—uncertain significance
rs20110559810:21,074,778G/A—likely benign
rs183536173310:21,074,786C/T—uncertain significance
rs55711293110:21,074,787G/A—likely benign
rs183536256410:21,074,789C/T—uncertain significance
rs37598267810:21,074,790G/A—likely benign
rs155476909510:21,074,807C/T—uncertain significance
rs57542310110:21,074,808G/A—likely benign
rs213161391710:21,074,815T/C—uncertain significance
rs158858630310:21,074,816C/A—uncertain significance
rs75037940610:21,074,818T/C—uncertain significance
rs76052657310:21,074,824C/A—uncertain significance
rs213161398910:21,074,826G/A—likely benign
rs74652985810:21,074,831C/T—uncertain significance
rs20218439910:21,074,832G/A—likely benign
rs249136807010:21,074,845T/C—uncertain significance
rs249136819810:21,074,861G/A—likely benign
rs37316791310:21,074,862G/C—likely benign
rs74645105810:21,074,867A/T—likely benign
rs19219370710:21,074,868G/A—likely benign
rs276584410:21,075,084G/C—benign
rs229660610:21,076,100C/A—benign
rs78045130310:21,076,111C/T—likely benign
rs4127736410:21,076,112G/A—likely benign
rs213161886810:21,076,120T/G—likely benign
rs37723675010:21,076,122G/A—likely benign
rs77941558210:21,076,131T/C—uncertain significance
rs213161903410:21,076,148G/A—uncertain significance
rs183549326210:21,076,150A/G—uncertain significance
rs20183835110:21,076,151T/C—uncertain significance
rs106050499410:21,076,152T/A—likely benign
rs74557450610:21,076,158C/T—uncertain significance
rs249137950510:21,076,160T/G—uncertain significance
rs101572444710:21,076,169C/T—uncertain significance
rs249137973010:21,076,176C/T—likely benign
rs53256548710:21,076,179G/A—likely benign
rs118656912010:21,076,183A/T—uncertain significance
rs249137987410:21,076,185G/A—likely benign
rs102471926610:21,076,186T/C—uncertain significance
rs249138008910:21,076,203A/G—likely benign
rs249138024410:21,076,214G/C—uncertain significance
rs183550094810:21,076,221T/A—likely benign
rs76699045010:21,076,222C/G—uncertain significance
rs75446334310:21,076,223C/T—uncertain significance
rs19988735310:21,076,224G/A—likely benign
rs249138058110:21,076,228A/T—uncertain significance
rs158859037410:21,076,244G/A—likely benign
rs269702710:21,076,285C/G—benign
rs710112710:21,076,301A/T—likely benign
rs229660710:21,076,307C/T—benign
rs229660810:21,076,500A/T—likely benign
rs11592229110:21,076,533C/T—benign
rs14571514110:21,076,565T/G—likely benign
rs14824489810:21,091,691C/Tupstream gene variant—
rs7626150410:21,097,121G/A—benign
rs7360751810:21,097,159A/T—likely benign
rs1082813510:21,097,212G/C—benign
rs76016220910:21,097,424G/A—likely benign
rs105751851610:21,097,439C/G—uncertain significance
rs87885490310:21,097,443T/C—likely benign
rs77812852710:21,097,452C/A—likely benign
rs14314916910:21,097,453G/A—uncertain significance
rs136949970210:21,097,460T/A—uncertain significance
rs156434198610:21,097,463C/T—uncertain significance
rs249156020510:21,097,466C/T—uncertain significance
rs77998174310:21,097,474C/T—uncertain significance
rs74998583010:21,097,475A/G—uncertain significance
rs14667367610:21,097,476T/A—likely benign
rs76840223710:21,097,482G/T—uncertain significance
rs76142528010:21,097,496C/T—uncertain significance
rs37445189910:21,097,497G/A—likely benign
rs76028248310:21,097,500G/T—likely benign
rs76592706710:21,097,501A/T—uncertain significance
rs249156095710:21,097,509C/T—likely benign
rs213076088910:21,097,511T/C—uncertain significance
rs76350848610:21,097,514C/T—uncertain significance
rs14024572710:21,097,515G/A—likely benign
rs75193022810:21,097,516T/G—uncertain significance

Showing 100 of 989 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.