MYBPC3 myosin binding protein C3

Information
Symbol
MYBPC3
Type
protein-coding
Description
myosin binding protein C3
Entrez Gene ID
4607
Genome
hg19
Position
chr11:47,352,957-47,374,253
Genome
hg38
Position
chr11:47,331,406-47,352,702
MIM
600958 OMIM
HGNC
HGNC:7551 HGNC
Ensembl
ENSG00000134571 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 59 1,320
Likely pathogenic 10 652
Benign 6 326
Likely benign 0 1,928
Conflicting classifications of pathogenicity 0 606
not provided 1 2
risk factor 0 2
Uncertain significance 0 3,174
Ranking
ClinVar
0
0
2,960
3,900
96
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMD1MM
SYNONYM CMH4
SYNONYM FHC
SYNONYM LVNC10
SYNONYM MYBP-C
SYNONYM cMyBP-C
MIM 600958 OMIM
HGNC HGNC:7551 HGNC
Ensembl ENSG00000134571 Ensembl
AllianceGenome HGNC:7551
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000545968.6 hg38 chr11 47,331,406 47,352,702 21,297
ENST00000399249.6 hg38 chr11 47,331,406 47,352,702 21,297
ENST00000399249.6 hg19 chr11 47,352,957 47,374,253 21,297
ENST00000545968.6 hg19 chr11 47,352,957 47,374,253 21,297
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