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MYH6 - myosin heavy chain 6
- Synonym(s) : cardiomyopathy, hypertrophic 1
- Previous symbols and names : myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
- Type : gene with protein product
- Chromosomal location : 14q11.2
- OMIM: 160710
- HGNC: 7576
- UniProtKB: P13533
- Genatlas: MYH6
- GenCC: MYH6
- Ensembl: ENSG00000197616
- IUPHAR-DB: -
- Reactome: P13533
- LOVD: MYH6
Diseases list
- Disease-causing germline mutation(s) in Atrial septal defect, ostium secundum type
ORPHA:99103 
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155 - Major susceptibility factor in Familial sick sinus syndrome
ORPHA:166282
: AssessedAdditional information
Patient-centred resources for this gene
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