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MYH6

Synonyms
ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
External resources
Summary
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
31
Likely pathogenic
1
VUS
12,275
Likely benign
6,308
Benign
2,083

Patient Phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on MYH6 gene are displayed below. The following symptoms were found in patients with a variant in MYH6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
21.9%
Abnormality of the musculoskeletal system
18.8%
Abnormality of head or neck
15.6%
Abnormality of the genitourinary system
15.6%
Growth abnormality
15.6%
Abnormality of the ear
12.5%
Abnormality of the digestive system
9.4%
Abnormality of metabolism homeostasis
6.3%
Abnormality of blood and blood forming tissues
3.1%
Abnormality of limbs
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the immune system
3.1%
Abnormality of the respiratory system
3.1%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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