MYH7B Chromosome 20
Myosin heavy chain 7B
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What This Gene Does
The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"Myosin heavy chains, class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q11.22
Ensembl
ENSG00000078814
Associated Conditions (6)
MYH7B-related disorder
Sarcoma
Hypertrophic cardiomyopathy 1
Short stature
Hypertrophic cardiomyopathy
Dilated cardiomyopathy with left ventricular noncompaction
Key Variants
RS199859740
Conflicting classifications of pathogenicity
Health Risk
RS199876576
Conflicting classifications of pathogenicity
MYH7B-related disorder, MYH7B-related disorder
Health Risk
RS200371401
Conflicting classifications of pathogenicity
Health Risk
RS202049379
Conflicting classifications of pathogenicity
Health Risk
RS202122911
Conflicting classifications of pathogenicity
MYH7B-related disorder, MYH7B-related disorder
Health Risk
RS370162493
Conflicting classifications of pathogenicity
Health Risk
RS374221267
Conflicting classifications of pathogenicity
MYH7B-related disorder, Sarcoma, MYH7B-related disorder
Health Risk
RS376856126
Conflicting classifications of pathogenicity
Health Risk
RS6060148
Conflicting classifications of pathogenicity
Health Risk
RS774221345
Conflicting classifications of pathogenicity
Health Risk
RS1417887060
Likely pathogenic
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS1430282035
Likely pathogenic
Short stature, Short stature
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199859740 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199876576 | Health Risk | Conflicting classifications of pathogenicity | MYH7B-related disorder, MYH7B-related disorder |
| RS200371401 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202049379 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202122911 | Health Risk | Conflicting classifications of pathogenicity | MYH7B-related disorder, MYH7B-related disorder |
| RS370162493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374221267 | Health Risk | Conflicting classifications of pathogenicity | MYH7B-related disorder, Sarcoma, MYH7B-related disorder |
| RS376856126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS6060148 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774221345 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1417887060 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1430282035 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1600448065 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1600462474 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1600480573 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2519197917 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS2519203450 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Dilated cardiomyopathy with left ventricular noncompaction, Hypertrophic cardiomyopathy |
| RS1050997719 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1600477808 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS764950910 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |