MYH7 Chromosome 14
Myosin heavy chain 7
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What This Gene Does
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]
Gene Info
Gene Group
"Myosin heavy chains, class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092054
Associated Conditions (47)
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Left ventricular hypertrophy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
Arrhythmogenic right ventricular dysplasia 9
MYH7-related disorder
MYH7-related skeletal myopathy
Dilated cardiomyopathy 1S
Myosin storage myopathy
Primary familial hypertrophic cardiomyopathy
Myopathy
myosin storage
autosomal recessive
6 conditions
Primary dilated cardiomyopathy
Hypotonia
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 5
+27 more conditions
Key Variants
RS1005703927
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1008225259
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1020453843
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1057517771
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057517773
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1057518560
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057519221
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1057521992
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1057524857
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1060499880
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1060501432
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1060501436
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
All Variants (761)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397516107 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS397516123 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516153 | Health Risk | Likely pathogenic | Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S |
| RS397516155 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS397516156 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1 |
| RS397516157 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397516165 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397516166 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516172 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516179 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516187 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397516202 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiovascular phenotype |
| RS397516212 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype |
| RS397516238 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516246 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy |
| RS397516248 | Health Risk | Likely pathogenic | MYH7-related skeletal myopathy, Primary dilated cardiomyopathy, Neuromuscular disease |
| RS397516252 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516254 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy |
| RS397516264 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, 6 conditions |
| RS45611033 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS551897533 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS587779392 | Health Risk | Likely pathogenic | MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) |
| RS587782961 | Health Risk | Likely pathogenic | Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS606231315 | Health Risk | Likely pathogenic | Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231318 | Health Risk | Likely pathogenic | Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231321 | Health Risk | Likely pathogenic | Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231335 | Health Risk | Likely pathogenic | Familial cardiomyopathy, Familial cardiomyopathy |
| RS606231340 | Health Risk | Likely pathogenic | Familial cardiomyopathy, Hypertrophic cardiomyopathy 1, Familial cardiomyopathy |
| RS727503253 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy |
| RS727503264 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503269 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Left ventricular noncompaction, Restrictive cardiomyopathy |
| RS727503271 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1 |
| RS727503276 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727503278 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Inborn genetic diseases, Primary familial hypertrophic cardiomyopathy |
| RS727504237 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727504241 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504267 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727504272 | Health Risk | Likely pathogenic | MYH7-related disorder, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504274 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1 |
| RS727504294 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504299 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504320 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS727504356 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy |
| RS727504558 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 1 |
| RS727504925 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727505148 | Health Risk | Likely pathogenic | — |
| RS727505202 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727505294 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy |
| RS730880749 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, 6 conditions, Cardiovascular phenotype |
| RS730880758 | Health Risk | Likely pathogenic | — |