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MYBPC3

From SNPedia
is agene
is mentioned by
Full namemyosin binding protein C, cardiac
EntrezGene4607
PheGenI4607
VariationViewer4607
ClinVarMYBPC3
GeneCardsMYBPC3
dbSNP4607
DiseasesMYBPC3
SADR4607
HugeNav4607
wikipediaMYBPC3
googleMYBPC3
gopubmedMYBPC3
EVSMYBPC3
HEFalMpMYBPC3
MyGene2MYBPC3
23andMeMYBPC3
UniProtQ14896
EnsemblENSG00000134571
OMIM600958
# SNPs537
 Max MagnitudeChromosome positionSummary
i500517147,354,789
i5046172familial hypertrophic cardiomyopathy mutation
i5046177
i5046245
i704231
i704270
rs1057517766047,351,255
rs1057517767047,350,534
rs1057517769047,332,576
rs1057517920047,342,744
rs1057517939047,351,294
rs1057518030047,337,769
rs1057521823047,332,071
rs1060499604047,339,323
rs1060499673047,333,199
rs1060501474747,338,563
rs1060501475047,333,647
rs1060501478047,338,549
rs1060501479047,351,465
rs1060501480047,332,221
rs1060501481047,337,420
rs1060501484047,332,576
rs1064792936047,351,272
rs1064793201047,352,623
rs1064793202047,333,622
rs1064793429047,338,670
rs1064793536047,346,319
rs1064793642047,339,660
rs1064793891047,333,336
rs1064794209047,342,581
rs1064794471047,341,226
rs1064796231047,332,160
rs1085307978047,332,146
rs1085308024047,332,170
rs111437311647,342,576
rs1116832776.247,333,556
rs1117299526.247,337,796
rs112179534047,341,246
rs112738974647,338,519
rs1133584866.247,333,555
rs11570045047,351,323
rs11570077047,343,568
rs11570112147,333,924
rs1219093746.247,342,578
rs1219093756.247,351,356
rs121909376047,335,104
rs121909377447,333,238
rs121909378047,332,931
rs1800565047,339,757
rs181834806247,342,658
... further results

The MYBPC3 gene provides instructions for making cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. Mutations in the MYBPC3 gene have been associated with familial hypertrophic cardiomyopathy, left ventricular noncompaction, and familial dilated cardiomyopathy.GHR

Mutations in the MYBPC3 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 30 percent of all dominantly inherited cases.