KEGG   VARIANT: 4607v1
Entry
4607v1                      Variant                                
Name
MYBPC3 mutation
Type
Loss of function
Gene
MYBPC3  myosin binding protein C3 [KO:K12568]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600958
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
Reference
  Authors
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
  Title
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
  Journal
Circ Genom Precis Med 13:396-405 (2020)
DOI:10.1161/CIRCGEN.120.002929
Reference
  Authors
Ehlermann P, Weichenhan D, Zehelein J, Steen H, Pribe R, Zeller R, Lehrke S, Zugck C, Ivandic BT, Katus HA
  Title
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
  Journal
BMC Med Genet 9:95 (2008)
DOI:10.1186/1471-2350-9-95
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