CALCR

calcitonin receptor

Summary

This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10421387:93,055,650G/A3 prime UTR variantbenign
rs1475032257:93,055,724C/T—likely benign
rs10494064547:93,055,744T/C—uncertain significance
rs18011977:93,055,753A/Gmissense variantrisk factor
rs17995293667:93,055,754G/T—uncertain significance
rs1503357917:93,055,808C/A—likely benign
rs3708930827:93,055,828G/C—uncertain significance
rs1496283247:93,055,846C/T—uncertain significance
rs13491865437:93,055,867A/G—uncertain significance
rs726151237:93,056,227A/G—benign
rs20720837:93,063,398G/T—benign
rs126695047:93,063,822G/A—benign
rs77908257:93,063,844A/T—benign
rs102156167:93,065,115C/G—benign
rs132345527:93,065,126T/A—benign
rs342291197:93,065,139T/A—benign
rs168683947:93,065,192T/C—benign
rs13128402427:93,065,323A/G—uncertain significance
rs25466822997:93,065,328C/T—uncertain significance
rs1403885477:93,065,420A/G—likely benign
rs358818107:93,065,753A/C—benign
rs5278755907:93,067,382G/T—uncertain significance
rs353426657:93,067,399G/T—benign
rs11589544527:93,067,534T/A—uncertain significance
rs20741227:93,072,671G/T—benign
rs7693605507:93,072,935C/G—uncertain significance
rs3684642317:93,072,946G/A—uncertain significance
rs734193857:93,072,953C/T—benign
rs20741237:93,073,147G/C—benign
rs132261247:93,073,372T/G—benign
rs22992477:93,083,588T/A——
rs77769177:93,089,120G/Aintron variant—
rs77770847:93,089,243G/Aintron variant—
rs102699497:93,090,009G/T—benign
rs102698787:93,090,133C/T—benign
rs7456655807:93,090,143C/T—uncertain significance
rs13135260247:93,090,173A/G—uncertain significance
rs25467000277:93,090,228T/C—uncertain significance
rs1437649187:93,090,257C/T—benign
rs102272397:93,090,586T/C—benign
rs11082337:93,091,238G/A—benign
rs38020527:93,091,485T/C—benign
rs38020517:93,091,488C/T—benign
rs601708997:93,091,587T/G—benign
rs608203767:93,091,588C/T—benign
rs104885407:93,091,614A/G—benign
rs737128987:93,091,731G/C—benign
rs102811437:93,097,974G/A—benign
rs15629858157:93,098,024T/C—likely benign
rs1420162577:93,098,070T/C—likely benign
rs7756628127:93,098,099T/C—uncertain significance
rs24844524437:93,098,114G/A—uncertain significance
rs102517277:93,098,195A/C—benign
rs171654787:93,098,238A/G—benign
rs38020477:93,099,063C/Tintron variant—
rs102352767:93,101,421G/A—benign
rs9729457:93,101,650A/G—benign
rs7803906437:93,101,689T/C—uncertain significance
rs7672634367:93,101,777A/T—uncertain significance
rs127046697:93,101,991T/C—benign
rs22992527:93,104,391A/Gintron variant—
rs177881327:93,106,544T/C—benign
rs1503148917:93,106,983G/A—benign
rs20741207:93,107,093A/C—benign
rs102425227:93,108,484G/A—benign
rs18007410787:93,108,678A/C—uncertain significance
rs12047509267:93,108,692T/C—uncertain significance
rs1445608467:93,108,698C/T—uncertain significance
rs2019461677:93,108,722T/G—uncertain significance
rs1427182507:93,108,744C/T—likely benign
rs7588427697:93,108,768C/G—uncertain significance
rs7808709547:93,108,790T/C—likely benign
rs20741217:93,109,083T/A—benign
rs96912207:93,116,138G/A—benign
rs7460639007:93,116,271C/T—uncertain significance
rs23016807:93,116,299A/G—benign
rs102621047:93,118,736C/Tintron variant—
rs171654917:93,125,110T/C—benign
rs357624237:93,125,564C/A—benign
rs69621857:93,135,055G/Aintron variant—
rs126680727:93,162,000C/Tintron variant—
rs77867657:93,199,928T/Aintron variant—
rs5310144217:93,200,681C/T——
rs69435277:93,205,706T/Cupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.