MYH8 Chromosome 17
Myosin heavy chain 8
Upload your DNA to see your personal genotypes for variants in MYH8.
What This Gene Does
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000133020
Associated Conditions (6)
Hecht syndrome
MYH8-related disorder
Inborn genetic diseases
Carney complex - trismus - pseudocamptodactyly syndrome
Hereditary skeletal muscle disorder
Primary dilated cardiomyopathy
Key Variants
RS1060499728
Conflicting classifications of pathogenicity
Hecht syndrome, Hecht syndrome
Health Risk
RS113848347
Conflicting classifications of pathogenicity
Hecht syndrome, Hecht syndrome
Health Risk
RS115483891
Conflicting classifications of pathogenicity
Health Risk
RS138064925
Conflicting classifications of pathogenicity
Health Risk
RS138607111
Conflicting classifications of pathogenicity
Hecht syndrome, MYH8-related disorder, Hecht syndrome
Health Risk
RS139344968
Conflicting classifications of pathogenicity
Hecht syndrome, Hecht syndrome
Health Risk
RS140408926
Conflicting classifications of pathogenicity
Hecht syndrome, Hecht syndrome
Health Risk
RS140562514
Conflicting classifications of pathogenicity
Hecht syndrome, MYH8-related disorder, Hecht syndrome
Health Risk
RS141215006
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hecht syndrome, Inborn genetic diseases
Health Risk
RS141899271
Conflicting classifications of pathogenicity
Hecht syndrome, Hecht syndrome
Health Risk
RS142073810
Conflicting classifications of pathogenicity
Hecht syndrome, MYH8-related disorder, Carney complex - trismus - pseudocamptodactyly syndrome
Health Risk
RS142606252
Conflicting classifications of pathogenicity
Hecht syndrome, MYH8-related disorder, Hecht syndrome
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499728 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS113848347 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS115483891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138064925 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138607111 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, MYH8-related disorder, Hecht syndrome |
| RS139344968 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS140408926 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS140562514 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, MYH8-related disorder, Hecht syndrome |
| RS141215006 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hecht syndrome, Inborn genetic diseases |
| RS141899271 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS142073810 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, MYH8-related disorder, Carney complex - trismus - pseudocamptodactyly syndrome |
| RS142606252 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, MYH8-related disorder, Hecht syndrome |
| RS142711931 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS144321381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144785726 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145863180 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS146669648 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, MYH8-related disorder, Hecht syndrome |
| RS148625172 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS149198713 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS199865613 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS201586936 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hereditary skeletal muscle disorder, Hecht syndrome |
| RS202061555 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS372740784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS567013242 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS571189404 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61730807 | Health Risk | Conflicting classifications of pathogenicity | MYH8-related disorder, MYH8-related disorder |
| RS751871946 | Health Risk | Conflicting classifications of pathogenicity | Carney complex - trismus - pseudocamptodactyly syndrome, Carney complex - trismus - pseudocamptodactyly syndrome |
| RS757938047 | Health Risk | Conflicting classifications of pathogenicity | Hecht syndrome, Hecht syndrome |
| RS777055080 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121434590 | Health Risk | Pathogenic | Hecht syndrome, Carney complex - trismus - pseudocamptodactyly syndrome, Hecht syndrome |