MYBPC3 Chromosome 11
Myosin binding protein C3
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What This Gene Does
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000134571
Associated Conditions (39)
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
Cardiomyopathy
MYBPC3-related disorder
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1A
Wolff-Parkinson-White pattern
Primary dilated cardiomyopathy
Paroxysmal atrial fibrillation
dilated
1MM
See cases
Amyloidosis
hereditary systemic 1
Cardiac arrest
Hypertrophic cardiomyopathy 1
Brugada syndrome
+19 more conditions
Key Variants
RS1003833483
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4
Health Risk
RS1041197781
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
Health Risk
RS1042129854
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1057517769
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057520329
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1057520977
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1057521823
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1060501483
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1064793891
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS113182334
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS11570060
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
Health Risk
RS11570077
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
All Variants (1139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2142850930 | Health Risk | Pathogenic | — |
| RS2142850980 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142851045 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142851321 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142851443 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142851880 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142852868 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142852888 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2142852944 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142853029 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2142853045 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142855351 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142856590 | Health Risk | Pathogenic | — |
| RS2142857362 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142859071 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142859074 | Health Risk | Pathogenic | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2142859289 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142860830 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2142861091 | Health Risk | Pathogenic | — |
| RS2142861454 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142861512 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142861729 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2142862199 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142862326 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiovascular phenotype |
| RS2142864164 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2142864321 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2142865197 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142865199 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142866256 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142866326 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2142867804 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142867855 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142868665 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2142868794 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2473150513 | Health Risk | Pathogenic | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS2495735937 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495736079 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495736211 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495736234 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495736329 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495736417 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495736462 | Health Risk | Pathogenic | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS2495736532 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495737827 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495737867 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495738176 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2495738531 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS2495738554 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2495738577 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS2495738634 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |