MYH11

myosin heavy chain 11

Summary

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]

Known Variants2,630 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605173016:15,797,207G/T—uncertain significance
rs11292644616:15,797,217G/A—likely benign
rs18903330016:15,797,238C/T—likely benign
rs156766734116:15,797,239G/A—uncertain significance
rs130801047716:15,797,241C/T—uncertain significance
rs203929651616:15,797,410A/G—uncertain significance
rs124510410716:15,797,474G/C—uncertain significance
rs77201949816:15,797,544G/A—uncertain significance
rs155554698316:15,797,787T/G—uncertain significance
rs18276810716:15,797,811G/T—likely benign
rs18764429616:15,797,829C/T—likely benign
rs19156214916:15,797,835T/C—benign
rs37656178316:15,797,844T/C—uncertain significance
rs203931849016:15,797,845T/C—likely benign
rs75194433916:15,797,847C/G—likely benign
rs91432878016:15,797,855C/G—uncertain significance
rs75512552916:15,797,860C/T—likely benign
rs131780952716:15,797,870T/C—uncertain significance
rs14641341516:15,797,880C/T—uncertain significance
rs14078971716:15,797,881G/A—conflicting classifications of pathogenicity
rs77215568616:15,797,886G/A—uncertain significance
rs144885351116:15,797,888G/T—uncertain significance
rs76100014216:15,797,893C/T—conflicting classifications of pathogenicity
rs14970102116:15,797,894G/T—uncertain significance
rs76814037616:15,797,898C/G—conflicting classifications of pathogenicity
rs145379428516:15,797,902C/T—likely benign
rs203932153216:15,797,903T/A—uncertain significance
rs203932163716:15,797,904C/T—uncertain significance
rs133915933416:15,797,908A/T—likely benign
rs125851051216:15,797,909C/T—uncertain significance
rs77640720016:15,797,910C/T—uncertain significance
rs203932217916:15,797,911A/G—likely benign
rs215115997216:15,797,913C/G—uncertain significance
rs76921134216:15,797,915G/A—uncertain significance
rs203932242216:15,797,917A/G—likely benign
rs250999392816:15,797,920T/G—uncertain significance
rs76484375216:15,797,924A/G—uncertain significance
rs76340324016:15,797,929T/C—likely benign
rs127744256916:15,797,931T/C—uncertain significance
rs76687517316:15,797,933C/T—uncertain significance
rs75186239816:15,797,934G/A—uncertain significance
rs19975213216:15,797,938T/C—likely benign
rs250999407216:15,797,941A/T—likely benign
rs203932365016:15,797,942G/A—uncertain significance
rs75612240616:15,797,958C/G—uncertain significance
rs14550554416:15,797,959G/A—uncertain significance
rs74679167416:15,797,968C/G—uncertain significance
rs76856684716:15,797,970C/T—uncertain significance
rs14952919516:15,797,971G/T—uncertain significance
rs76935633816:15,797,978C/T—uncertain significance
rs77267039316:15,797,979G/A—uncertain significance
rs76246134016:15,797,987G/A—likely benign
rs203932653116:15,797,993A/G—uncertain significance
rs11519534616:15,798,015G/T—likely benign
rs224254916:15,798,210G/Tintron variantbenign
rs37348432716:15,802,641G/A—likely benign
rs36983202416:15,802,652C/T—likely benign
rs55782170216:15,802,659C/T—uncertain significance
rs88603839316:15,802,663G/T—uncertain significance
rs215117315016:15,802,665G/A—uncertain significance
rs136591612116:15,802,670A/T—uncertain significance
rs37085863016:15,802,673G/A—conflicting classifications of pathogenicity
rs37389939516:15,802,674C/T—likely benign
rs75418361016:15,802,675G/A—uncertain significance
rs215117319616:15,802,678G/A—uncertain significance
rs37736610016:15,802,682C/T—uncertain significance
rs76195720216:15,802,684T/C—uncertain significance
rs76545768016:15,802,685G/T—uncertain significance
rs11158814316:15,802,687G/A—uncertain significance
rs20088444016:15,802,688G/C—conflicting classifications of pathogenicity
rs105752449316:15,802,689G/T—likely benign
rs133850128416:15,802,691G/A—uncertain significance
rs159667534216:15,802,692G/T—likely benign
rs76503063516:15,802,693G/T—uncertain significance
rs203961450016:15,802,694G/C—uncertain significance
rs77835025316:15,802,695C/G—likely benign
rs203961512216:15,802,701G/C—uncertain significance
rs115623541816:15,802,705C/G—uncertain significance
rs74537187416:15,802,707G/A—conflicting classifications of pathogenicity
rs148039044316:15,802,709G/T—conflicting classifications of pathogenicity
rs77256981516:15,802,713G/A—likely benign
rs76918722516:15,802,717C/T—likely benign
rs203961701816:15,802,718C/A—likely benign
rs14677930716:15,802,862C/T—likely benign
rs974695016:15,802,946G/T—benign
rs11644103816:15,802,978T/C—likely benign
rs7137609416:15,808,546G/T—likely benign
rs7277201616:15,808,584C/G—likely benign
rs75947905216:15,808,747C/T—likely benign
rs76930983416:15,808,748G/A—likely benign
rs129789576616:15,808,749G/A—likely benign
rs74852922816:15,808,754C/T—likely benign
rs36763185216:15,808,758C/T—likely benign
rs215119174716:15,808,759T/C—conflicting classifications of pathogenicity
rs76641735116:15,808,760C/G—uncertain significance
rs204003395216:15,808,767T/G—uncertain significance
rs119887616716:15,808,768G/A—likely benign
rs215119180316:15,808,775C/T—uncertain significance
rs126465694816:15,808,776T/C—uncertain significance
rs143109981016:15,808,782G/A—uncertain significance

Showing 100 of 2,630 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.