MYH7

myosin heavy chain 7

Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]

Known Variants3,608 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14209440414:23,877,490C/T—likely benign
rs714250314:23,881,909G/A—benign
rs1214757014:23,881,920G/T—benign
rs20055071714:23,881,958A/G—conflicting classifications of pathogenicity
rs93851573014:23,881,982C/T—uncertain significance
rs4554863114:23,882,043C/T—likely benign
rs1580814:23,882,057G/A—uncertain significance
rs213863311414:23,882,059A/G—likely benign
rs156652065914:23,882,062G/A—likely benign
rs137429138314:23,882,063C/T—conflicting classifications of pathogenicity
rs36754305314:23,882,064T/Cstop lostpathogenic
rs189202865614:23,882,069C/T—likely benign
rs73088082514:23,882,071C/T—uncertain significance
rs213863316414:23,882,073T/A—uncertain significance
rs250222965314:23,882,074T/G—uncertain significance
rs14842067214:23,882,078G/A—conflicting classifications of pathogenicity
rs133369326914:23,882,082T/A—uncertain significance
rs76408725214:23,882,085T/C—likely benign
rs105620484214:23,882,086G/C—likely benign
rs250222974714:23,882,099G/A—likely benign
rs228465114:23,882,144T/C—benign
rs714951714:23,882,186T/G—benign
rs275415014:23,882,242G/T—likely benign
rs1288212814:23,882,302T/C—benign
rs7967590814:23,882,838C/T—likely benign
rs13881931514:23,882,850G/A—likely benign
rs233197914:23,882,855A/G—benign
rs250223257114:23,882,952C/T—likely benign
rs19997576114:23,882,953A/C—likely benign
rs37055374614:23,882,954A/T—likely benign
rs213863495614:23,882,957G/C—likely benign
rs54658299014:23,882,958A/G—likely benign
rs105752199214:23,882,959G/C—conflicting classifications of pathogenicity
rs76443483114:23,882,961G/T—likely benign
rs250223263714:23,882,963C/A—uncertain significance
rs77655074014:23,882,964C/A—uncertain significance
rs189206541214:23,882,969T/G—uncertain significance
rs39751625714:23,882,971C/T—conflicting classifications of pathogenicity
rs73088091814:23,882,972G/Amissense variantuncertain significance
rs146964268014:23,882,976C/T—uncertain significance
rs213863504114:23,882,977A/G—likely benign
rs76730027714:23,882,979T/A—uncertain significance
rs75255358914:23,882,984C/T—uncertain significance
rs75570652614:23,882,985G/C—pathogenic
rs78620438514:23,882,987C/A—uncertain significance
rs159507037314:23,882,991T/C—uncertain significance
rs77752447414:23,882,993G/A—uncertain significance
rs136669034914:23,882,995C/T—likely benign
rs39751625614:23,882,996C/T—conflicting classifications of pathogenicity
rs53929059114:23,882,997G/Amissense variantpathogenic
rs213863512014:23,882,998C/A—likely benign
rs134337230814:23,883,001C/G—uncertain significance
rs13811091014:23,883,004G/Cmissense variantpathogenic
rs39751625514:23,883,009C/A—uncertain significance
rs250223294614:23,883,010C/G—uncertain significance
rs155533593314:23,883,012G/A—conflicting classifications of pathogenicity
rs213863515614:23,883,013G/A—likely benign
rs250223297514:23,883,014G/C—uncertain significance
rs213863516814:23,883,016C/A—conflicting classifications of pathogenicity
rs39751625414:23,883,018C/Tmissense variantpathogenic
rs20092100014:23,883,019G/A—likely benign
rs74745110914:23,883,021C/T—uncertain significance
rs20072859714:23,883,022G/A—benign
rs159507041914:23,883,023A/T—uncertain significance
rs139648623114:23,883,024T/A—uncertain significance
rs77694094814:23,883,028C/T—likely benign
rs145410533514:23,883,029G/A—uncertain significance
rs213863524014:23,883,030C/T—uncertain significance
rs76175015914:23,883,031C/T—likely benign
rs39751625314:23,883,032C/Gmissense variantuncertain significance
rs14679687014:23,883,033G/A—uncertain significance
rs189207010014:23,883,034C/T—likely benign
rs189207024014:23,883,035T/A—uncertain significance
rs4552323314:23,883,040T/G—conflicting classifications of pathogenicity
rs39751625214:23,883,041G/Cmissense variantpathogenic
rs189207067014:23,883,043C/T—likely benign
rs98805204814:23,883,049C/T—likely benign
rs213863532514:23,883,052C/T—likely benign
rs18707396214:23,883,054C/T—uncertain significance
rs4557063514:23,883,055G/A—likely benign
rs12191364914:23,883,056T/Amissense variantpathogenic
rs189207128914:23,883,061C/T—uncertain significance
rs72750438414:23,883,062A/G—uncertain significance
rs250223330914:23,883,063C/T—uncertain significance
rs72750324014:23,883,068C/Tmissense variantuncertain significance
rs75665580314:23,883,069G/A—uncertain significance
rs77856222914:23,883,071A/C—uncertain significance
rs250223337414:23,883,072A/G—uncertain significance
rs86827563214:23,883,074T/C—uncertain significance
rs189207218314:23,883,078A/G—uncertain significance
rs159507049114:23,883,079C/G—likely benign
rs159507049614:23,883,082G/T—uncertain significance
rs213863542314:23,883,086G/A—uncertain significance
rs129594850814:23,883,087T/C—conflicting classifications of pathogenicity
rs159507050214:23,883,091G/A—likely benign
rs145572039914:23,883,092G/C—uncertain significance
rs54035000714:23,883,094T/C—likely benign
rs213863545314:23,883,096G/A—uncertain significance
rs73088072714:23,883,097C/T—likely benign
rs37540455414:23,883,098T/C—uncertain significance

Showing 100 of 3,608 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.