LRCH1

leucine rich repeats and calponin homology domain containing 1

Summary

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

Known Variants73 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250151495413:47,127,569C/T—uncertain significance
rs89739891313:47,127,587C/T—uncertain significance
rs20169909813:47,127,606T/G—uncertain significance
rs119648098813:47,127,668G/A—uncertain significance
rs137504498213:47,127,673G/C—uncertain significance
rs75428394513:47,127,691G/T—uncertain significance
rs74724398713:47,127,803C/T—uncertain significance
rs153579113:47,165,458T/G——
rs91242813:47,167,903A/Gregulatory region variant—
rs57186022513:47,187,702G/A——
rs91243413:47,189,928G/Tintron variant—
rs733568413:47,193,696G/Aintron variant—
rs177313313:47,221,220G/Cintron variant—
rs174722113:47,225,573G/A——
rs959097413:47,238,717C/G——
rs953446113:47,241,834T/G——
rs799362813:47,242,065T/Cregulatory region variant—
rs799230713:47,242,104C/Gregulatory region variant—
rs494156513:47,242,912T/Gregulatory region variant—
rs374227113:47,242,927G/Cregulatory region variant—
rs77618758313:47,243,226G/A—uncertain significance
rs424533813:47,244,162G/C——
rs424533913:47,244,223T/Gintron variant—
rs132400713:47,245,318C/Tintron variant—
rs798389813:47,245,633G/Cintron variant—
rs798408313:47,245,745G/T——
rs953446313:47,246,824C/T——
rs74553018413:47,255,879G/A—uncertain significance
rs37050022913:47,255,901C/T—uncertain significance
rs136956431213:47,255,928A/T—uncertain significance
rs20132193613:47,255,937G/A—uncertain significance
rs36963517313:47,255,966A/C—uncertain significance
rs84238013:47,260,131A/G—benign
rs133468806213:47,260,154C/T—uncertain significance
rs76500382913:47,262,016T/G—uncertain significance
rs254196168013:47,262,026A/C—uncertain significance
rs37704146013:47,262,027G/A—uncertain significance
rs20013561613:47,262,029A/G—uncertain significance
rs14464750413:47,262,043G/C—uncertain significance
rs20221148313:47,266,711C/T—uncertain significance
rs89727523913:47,266,728G/C—uncertain significance
rs14123480113:47,266,750C/T—uncertain significance
rs37131757613:47,266,758C/T—uncertain significance
rs3455455913:47,269,075A/C—benign
rs254197571413:47,269,097G/A—uncertain significance
rs14474380013:47,273,501C/T—uncertain significance
rs118286752813:47,275,287A/G—uncertain significance
rs74949262413:47,275,340T/A—uncertain significance
rs77366520413:47,279,208G/A—uncertain significance
rs15112771013:47,279,429C/T—uncertain significance
rs78065134313:47,285,926G/T—uncertain significance
rs77353073413:47,286,705G/A—uncertain significance
rs37161813613:47,289,718A/G—uncertain significance
rs37426774613:47,289,722C/A—uncertain significance
rs953447513:47,292,611A/G——
rs1706869713:47,293,815A/Gintron variant—
rs223659213:47,295,916C/Tintron variant—
rs75006118113:47,297,388A/G—uncertain significance
rs254202895313:47,297,391G/A—uncertain significance
rs75254256313:47,297,454C/A—uncertain significance
rs153917713:47,300,055G/Aintron variant—
rs78019192313:47,302,983G/A—uncertain significance
rs76733929013:47,303,048G/A—uncertain significance
rs122629304413:47,303,060C/A—uncertain significance
rs142683964213:47,303,087G/T—uncertain significance
rs20110483213:47,308,070G/C—uncertain significance
rs77396749013:47,308,108C/T—uncertain significance
rs139130116113:47,308,114G/A—uncertain significance
rs37731967513:47,315,858G/A—uncertain significance
rs74694003313:47,315,899G/T—uncertain significance
rs77467549513:47,315,938A/G—uncertain significance
rs76684966013:47,315,949A/G—uncertain significance
rs56840308113:47,324,766C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.