MYBPHL

myosin binding protein H like

Summary

This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Known Variants55 total

rsidPosition (GRCh37)AllelesClassClinVar
rs170361141:109,836,792G/C—benign
rs37387771:109,836,835G/A—benign
rs6463351:109,836,842G/C—benign
rs768487201:109,837,551A/G—benign
rs784481001:109,837,708G/A—benign
rs7583853591:109,837,747C/T—uncertain significance
rs1390016341:109,837,783G/A—uncertain significance
rs1463815931:109,837,810A/G—uncertain significance
rs25267891041:109,837,841A/G—uncertain significance
rs6325141:109,838,116C/T—benign
rs6168991:109,838,833T/C—benign
rs6290011:109,838,918T/C—benign
rs7648670051:109,838,945C/T—uncertain significance
rs1398495111:109,838,960G/A—uncertain significance
rs6043491:109,839,392G/A—benign
rs556602241:109,839,400C/T—benign
rs7586162001:109,839,413T/C—uncertain significance
rs3749558601:109,839,423C/T—uncertain significance
rs7754491571:109,839,431G/A—uncertain significance
rs12782851:109,839,433A/G—benign
rs3680907691:109,839,459C/T—uncertain significance
rs12935580441:109,839,471C/T—uncertain significance
rs3721104911:109,839,510G/T—uncertain significance
rs1427782451:109,839,519C/T—uncertain significance
rs1415180101:109,839,533C/T—uncertain significance
rs25267976831:109,839,535G/C—uncertain significance
rs7760760341:109,839,539T/A—uncertain significance
rs3727476401:109,839,674C/G—uncertain significance
rs7720886801:109,839,727G/A—uncertain significance
rs38506151:109,839,738C/A—benign
rs7593158681:109,839,751A/G—uncertain significance
rs7960521881:109,839,767C/T—likely benign
rs3739175311:109,839,774G/C—uncertain significance
rs75159011:109,839,896T/C—benign
rs6036241:109,839,954C/G—benign
rs25268013871:109,840,086C/G—uncertain significance
rs1439262621:109,840,109C/T—uncertain significance
rs1996841871:109,840,124C/T—uncertain significance
rs9516012751:109,840,170G/A—uncertain significance
rs12787044001:109,840,178A/G—uncertain significance
rs5402524371:109,840,204A/T—uncertain significance
rs6008061:109,840,629A/G—benign
rs584072211:109,840,717C/G—benign
rs10271084081:109,840,813A/C—uncertain significance
rs3737626681:109,840,855C/T—uncertain significance
rs2015873931:109,840,856G/A—uncertain significance
rs2009388471:109,840,865A/G—uncertain significance
rs7785577061:109,840,877G/T—uncertain significance
rs1150302511:109,840,918T/C—benign
rs612902341:109,841,071G/A—benign
rs6385421:109,845,252G/Aintron variant—
rs4433451:109,849,254A/G—benign
rs25268357181:109,849,534G/A—uncertain significance
rs1498963141:109,849,546G/A—uncertain significance
rs5274907741:109,849,598C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.